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NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 9, 2018
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:
RCV000620285.4

Allele description [Variation Report for NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)]

NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)

Gene:
GPD1L:glycerol-3-phosphate dehydrogenase 1 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
Other names:
p.I124V:ATA>GTA
HGVS:
  • NC_000003.12:g.32140231A>G
  • NG_023375.1:g.38721A>G
  • NM_015141.4:c.370A>GMANE SELECT
  • NP_055956.1:p.Ile124Val
  • NP_055956.1:p.Ile124Val
  • LRG_419t1:c.370A>G
  • LRG_419:g.38721A>G
  • LRG_419p1:p.Ile124Val
  • NC_000003.11:g.32181723A>G
  • NM_015141.3:c.370A>G
  • Q8N335:p.Ile124Val
Protein change:
I124V; ILE124VAL
Links:
UniProtKB: Q8N335#VAR_044045; OMIM: 611778.0003; dbSNP: rs72552293
NCBI 1000 Genomes Browser:
rs72552293
Molecular consequence:
  • NM_015141.4:c.370A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000737734Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 9, 2018) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Prevalence and prognosis of subjects with Brugada-type ECG pattern in a young and middle-aged Finnish population.

Junttila MJ, Raatikainen MJ, Karjalainen J, Kauma H, Kesäniemi YA, Huikuri HV.

Eur Heart J. 2004 May;25(10):874-8.

PubMed [citation]
PMID:
15140536

Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.

Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ.

Circulation. 2007 Nov 13;116(20):2253-9. Epub 2007 Oct 29.

PubMed [citation]
PMID:
17967976
PMCID:
PMC3332545
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000737734.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 8, 2024