ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.692G>A (p.Arg231His)

gnomAD frequency: 0.00001  dbSNP: rs869025436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208510 SCV000263945 uncertain significance Primary dilated cardiomyopathy 2015-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363042 SCV002664322 uncertain significance Cardiovascular phenotype 2021-11-19 criteria provided, single submitter clinical testing The p.R231H variant (also known as c.692G>A), located in coding exon 6 of the GPD1L gene, results from a G to A substitution at nucleotide position 692. The arginine at codon 231 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002517398 SCV003445574 uncertain significance Brugada syndrome 2022-08-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 231 of the GPD1L protein (p.Arg231His). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 222645). This variant has not been reported in the literature in individuals affected with GPD1L-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%).

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