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NM_001134707.2(SARDH):c.1705G>A (p.Ala569Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 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:
RCV004256726.1

Allele description [Variation Report for NM_001134707.2(SARDH):c.1705G>A (p.Ala569Thr)]

NM_001134707.2(SARDH):c.1705G>A (p.Ala569Thr)

Gene:
SARDH:sarcosine dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_001134707.2(SARDH):c.1705G>A (p.Ala569Thr)
HGVS:
  • NC_000009.12:g.133696325C>T
  • NG_008987.1:g.48631G>A
  • NG_008987.2:g.48630G>A
  • NM_001134707.2:c.1705G>AMANE SELECT
  • NM_007101.4:c.1705G>A
  • NP_001128179.1:p.Ala569Thr
  • NP_009032.2:p.Ala569Thr
  • NC_000009.11:g.136561447C>T
  • NM_007101.3:c.1705G>A
Protein change:
A569T
Molecular consequence:
  • NM_001134707.2:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007101.4:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003889076Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 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, SCV003889076.2

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

Description

The c.1705G>A (p.A569T) alteration is located in exon 14 (coding exon 13) of the SARDH gene. This alteration results from a G to A substitution at nucleotide position 1705, causing the alanine (A) at amino acid position 569 to be replaced by a threonine (T). 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: Nov 10, 2024