ClinVar for MedGen (Select 410026) - ClinVar

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Items: 62

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13335131.	NM_058179.4(PSAT1):c.444C>A (p.Tyr148Ter) GRCh37: Chr9:80921276 GRCh38: Chr9:78306360	PSAT1	Y148*	PSAT deficiency	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 12509592.	NM_058179.4(PSAT1):c.570+44G>T GRCh37: Chr9:80921446 GRCh38: Chr9:78306530	PSAT1		PSAT deficiency, not provided, Neu-Laxova syndrome 2	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11649713.	NM_058179.4(PSAT1):c.741-18T>A GRCh37: Chr9:80932574 GRCh38: Chr9:78317658	PSAT1		PSAT deficiency, Neu-Laxova syndrome 2, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9769994.	NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu) GRCh37: Chr9:80923436 GRCh38: Chr9:78308520	PSAT1	S226L	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9768985.	NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr) GRCh37: Chr9:80932644 GRCh38: Chr9:78317728	PSAT1	A265T	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9764796.	NM_058179.4(PSAT1):c.955dup (p.Arg319fs) GRCh37: Chr9:80943046-80943047 GRCh38: Chr9:78328130-78328131	PSAT1	R319fs	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Nov 21, 2019)	no assertion criteria provided
Select item 9764787.	NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys) GRCh37: Chr9:80921252 GRCh38: Chr9:78306336	PSAT1	W140C	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Nov 21, 2019)	no assertion criteria provided
Select item 9146158.	NM_058179.4(PSAT1):c.706A>C (p.Asn236His) GRCh37: Chr9:80923465 GRCh38: Chr9:78308549	PSAT1	N236H	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9145749.	NM_058179.4(PSAT1):c.-26T>G GRCh37: Chr9:80912101 GRCh38: Chr9:78297185	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91415510.	NM_058179.4(PSAT1):c.*939C>T GRCh37: Chr9:80944941 GRCh38: Chr9:78330025	PSAT1		PSAT deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91415411.	NM_058179.4(PSAT1):c.*719G>A GRCh37: Chr9:80944721 GRCh38: Chr9:78329805	PSAT1		PSAT deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91410912.	NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) GRCh37: Chr9:80923459 GRCh38: Chr9:78308543	PSAT1	A234S	Neu-Laxova syndrome 2, PSAT deficiency	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 91410813.	NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) GRCh37: Chr9:80923424 GRCh38: Chr9:78308508	PSAT1	R222Q	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91410714.	NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn) GRCh37: Chr9:80921331 GRCh38: Chr9:78306415	PSAT1	D167N	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91410615.	NM_058179.4(PSAT1):c.445G>A (p.Val149Met) GRCh37: Chr9:80921277 GRCh38: Chr9:78306361	PSAT1	V149M	Neu-Laxova syndrome 2, PSAT deficiency	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 91410516.	NM_058179.4(PSAT1):c.398-7G>A GRCh37: Chr9:80921223 GRCh38: Chr9:78306307	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91410417.	NM_058179.4(PSAT1):c.370G>A (p.Val124Ile) GRCh37: Chr9:80919829 GRCh38: Chr9:78304913	PSAT1	V124I	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91375618.	NM_058179.4(PSAT1):c.*554G>A GRCh37: Chr9:80944556 GRCh38: Chr9:78329640	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91375519.	NM_058179.4(PSAT1):c.*498C>T GRCh37: Chr9:80944500 GRCh38: Chr9:78329584	PSAT1		PSAT deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91375420.	NM_058179.4(PSAT1):c.*496A>G GRCh37: Chr9:80944498 GRCh38: Chr9:78329582	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91371721.	NM_058179.4(PSAT1):c.335C>T (p.Ala112Val) GRCh37: Chr9:80919794 GRCh38: Chr9:78304878	PSAT1	A112V	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91371622.	NM_058179.4(PSAT1):c.270C>T (p.Leu90=) GRCh37: Chr9:80919729 GRCh38: Chr9:78304813	PSAT1		Neu-Laxova syndrome 2, PSAT deficiency	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 91371523.	NM_058179.4(PSAT1):c.231A>T (p.Gly77=) GRCh37: Chr9:80919690 GRCh38: Chr9:78304774	PSAT1		Neu-Laxova syndrome 2, PSAT deficiency	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 91371424.	NM_058179.4(PSAT1):c.107G>A (p.Gly36Asp) GRCh37: Chr9:80915564 GRCh38: Chr9:78300648	PSAT1	G36D	PSAT deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91265425.	NM_058179.4(PSAT1):c.*378T>C GRCh37: Chr9:80944380 GRCh38: Chr9:78329464	PSAT1		PSAT deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91265326.	NM_058179.4(PSAT1):c.*293A>G GRCh37: Chr9:80944295 GRCh38: Chr9:78329379	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91265227.	NM_058179.4(PSAT1):c.*252G>A GRCh37: Chr9:80944254 GRCh38: Chr9:78329338	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91265128.	NM_058179.4(PSAT1):c.*251C>T GRCh37: Chr9:80944253 GRCh38: Chr9:78329337	PSAT1		PSAT deficiency	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91265029.	NM_058179.4(PSAT1):c.*219A>G GRCh37: Chr9:80944221 GRCh38: Chr9:78329305	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91264930.	NM_058179.4(PSAT1):c.1074C>T (p.Ala358=) GRCh37: Chr9:80943963 GRCh38: Chr9:78329047	PSAT1		Neu-Laxova syndrome 2, PSAT deficiency	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 91261631.	NM_058179.4(PSAT1):c.104T>A (p.Val35Asp) GRCh37: Chr9:80915561 GRCh38: Chr9:78300645	PSAT1	V35D	PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91261532.	NM_058179.4(PSAT1):c.10C>G (p.Pro4Ala) GRCh37: Chr9:80912136 GRCh38: Chr9:78297220	PSAT1	P4A	PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91261433.	NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr) GRCh37: Chr9:80912130 GRCh38: Chr9:78297214	PSAT1	D2Y	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Nov 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80248834.	NM_058179.4(PSAT1):c.121+5G>A GRCh37: Chr9:80915583 GRCh38: Chr9:78300667	PSAT1		Neu-Laxova syndrome 2, PSAT deficiency	Conflicting interpretations of pathogenicity (Oct 15, 2021)	criteria provided, conflicting interpretations
Select item 63205035.	NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg) GRCh37: Chr9:80944000 GRCh38: Chr9:78329084	PSAT1		Neu-Laxova syndrome 2, PSAT deficiency, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63204936.	NM_058179.4(PSAT1):c.61-2A>G GRCh37: Chr9:80915516 GRCh38: Chr9:78300600	PSAT1		PSAT deficiency	Uncertain significance (Nov 14, 2018)	criteria provided, single submitter
Select item 54203937.	NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) GRCh37: Chr9:80943013 GRCh38: Chr9:78328097	PSAT1	R306C	Neu-Laxova syndrome 2, PSAT deficiency	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 45038038.	NM_058179.4(PSAT1):c.44C>T (p.Ala15Val) GRCh37: Chr9:80912170 GRCh38: Chr9:78297254	PSAT1	A15V	not provided	Uncertain significance (Jul 3, 2017)	criteria provided, single submitter
Select item 45037639.	NM_058179.4(PSAT1):c.432del (p.Asp145fs) GRCh37: Chr9:80921264 GRCh38: Chr9:78306348	PSAT1	D145fs	not provided	Pathogenic (Jul 3, 2017)	criteria provided, single submitter
Select item 36747040.	NM_058179.4(PSAT1):c.*865C>G GRCh37: Chr9:80944867 GRCh38: Chr9:78329951	PSAT1		PSAT deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36746941.	NM_058179.4(PSAT1):c.*836A>G GRCh37: Chr9:80944838 GRCh38: Chr9:78329922	PSAT1		not provided, PSAT deficiency	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 36746842.	NM_058179.4(PSAT1):c.*789A>G GRCh37: Chr9:80944791 GRCh38: Chr9:78329875	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36746743.	NM_058179.4(PSAT1):c.*670T>G GRCh37: Chr9:80944672 GRCh38: Chr9:78329756	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36746644.	NM_058179.4(PSAT1):c.*664A>G GRCh37: Chr9:80944666 GRCh38: Chr9:78329750	PSAT1		PSAT deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36746545.	NM_058179.4(PSAT1):c.*592A>C GRCh37: Chr9:80944594 GRCh38: Chr9:78329678	PSAT1		PSAT deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36746446.	NM_058179.4(PSAT1):c.*422C>T GRCh37: Chr9:80944424 GRCh38: Chr9:78329508	PSAT1		PSAT deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36746347.	NM_058179.4(PSAT1):c.*252G>C GRCh37: Chr9:80944254 GRCh38: Chr9:78329338	PSAT1		PSAT deficiency	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36746248.	NM_058179.4(PSAT1):c.*241C>A GRCh37: Chr9:80944243 GRCh38: Chr9:78329327	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36746149.	NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) GRCh37: Chr9:80943948 GRCh38: Chr9:78329032	PSAT1		PSAT deficiency, Neu-Laxova syndrome 2	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36746050.	NM_058179.4(PSAT1):c.1008-11G>T GRCh37: Chr9:80943886 GRCh38: Chr9:78328970	PSAT1		PSAT deficiency, Neu-Laxova syndrome 2	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36745951.	NM_058179.4(PSAT1):c.1007+13G>A GRCh37: Chr9:80943117 GRCh38: Chr9:78328201	PSAT1		PSAT deficiency, Neu-Laxova syndrome 2	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 36745852.	NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr) GRCh37: Chr9:80932672 GRCh38: Chr9:78317756	PSAT1	K274T	PSAT deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36745753.	NM_058179.4(PSAT1):c.571-4dup GRCh37: Chr9:80923321-80923322 GRCh38: Chr9:78308405-78308406	PSAT1		PSAT deficiency, Neu-Laxova syndrome 2	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 36745654.	NM_058179.4(PSAT1):c.398-14G>A GRCh37: Chr9:80921216 GRCh38: Chr9:78306300	PSAT1		PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36745555.	NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) GRCh37: Chr9:80919826 GRCh38: Chr9:78304910	PSAT1	I123V	Neu-Laxova syndrome 2, PSAT deficiency	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36745456.	NM_058179.4(PSAT1):c.297T>G (p.Ala99=) GRCh37: Chr9:80919756 GRCh38: Chr9:78304840	PSAT1		Neu-Laxova syndrome 2, PSAT deficiency	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36745357.	NM_058179.4(PSAT1):c.55C>G (p.His19Asp) GRCh37: Chr9:80912181 GRCh38: Chr9:78297265	PSAT1	H19D	PSAT deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36745258.	NM_058179.4(PSAT1):c.54G>A (p.Pro18=) GRCh37: Chr9:80912180 GRCh38: Chr9:78297264	PSAT1		Neu-Laxova syndrome 2, PSAT deficiency	Conflicting interpretations of pathogenicity (Apr 19, 2022)	criteria provided, conflicting interpretations
Select item 36745159.	NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) GRCh37: Chr9:80912169 GRCh38: Chr9:78297253	PSAT1	A15P	Neu-Laxova syndrome 2, PSAT deficiency	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36745060.	NM_058179.4(PSAT1):c.-12G>C GRCh37: Chr9:80912115 GRCh38: Chr9:78297199	PSAT1		Neu-Laxova syndrome 2, PSAT deficiency	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 108261.	NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) GRCh37: Chr9:80919758 GRCh38: Chr9:78304842	PSAT1	D100A	not provided, PSAT deficiency	Pathogenic/Likely pathogenic (May 1, 2007)	no assertion criteria provided
Select item 108162.	NM_058179.4(PSAT1):c.107del (p.Gly36fs) GRCh37: Chr9:80915563 GRCh38: Chr9:78300647	PSAT1	G36fs	PSAT deficiency	Pathogenic (May 1, 2007)	no assertion criteria provided

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Items: 62