ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg)

gnomAD frequency: 0.00008  dbSNP: rs766548555
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354453 SCV000343770 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765612 SCV000896936 uncertain significance 3M syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000765612 SCV001301374 uncertain significance 3M syndrome 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000354453 SCV001483408 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1313 of the OBSL1 protein (p.Gly1313Arg). This variant is present in population databases (rs766548555, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with OBSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289411). 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"). 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.
GeneDx RCV000354453 SCV001790773 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV000354453 SCV005188326 uncertain significance not provided criteria provided, single submitter not provided

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