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NM_001395333.1(MTCL1):c.2228G>A (p.Arg743Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003190231.2

Allele description [Variation Report for NM_001395333.1(MTCL1):c.2228G>A (p.Arg743Gln)]

NM_001395333.1(MTCL1):c.2228G>A (p.Arg743Gln)

Gene:
MTCL1:microtubule crosslinking factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.22
Genomic location:
Preferred name:
NM_001395333.1(MTCL1):c.2228G>A (p.Arg743Gln)
HGVS:
  • NC_000018.10:g.8784260G>A
  • NM_001378205.1:c.2228G>A
  • NM_001378206.1:c.2228G>A
  • NM_001378207.1:c.2228G>A
  • NM_001395220.1:c.1148G>A
  • NM_001395333.1:c.2228G>AMANE SELECT
  • NM_015210.4:c.1148G>A
  • NP_001365134.1:p.Arg743Gln
  • NP_001365135.1:p.Arg743Gln
  • NP_001365136.1:p.Arg743Gln
  • NP_001382149.1:p.Arg383Gln
  • NP_001382262.1:p.Arg743Gln
  • NP_056025.2:p.Arg383Gln
  • NC_000018.9:g.8784258G>A
  • NM_015210.3:c.1148G>A
Protein change:
R383Q
Molecular consequence:
  • NM_001378205.1:c.2228G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378206.1:c.2228G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378207.1:c.2228G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395220.1:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395333.1:c.2228G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015210.4:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003877932Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 23, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003877932.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1148G>A (p.R383Q) alteration is located in exon 6 (coding exon 4) of the MTCL1 gene. This alteration results from a G to A substitution at nucleotide position 1148, causing the arginine (R) at amino acid position 383 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024