ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.349G>A (p.Val117Met)

dbSNP: rs1555889031
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514466 SCV000609953 pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000514466 SCV001832453 uncertain significance not provided 2019-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514466 SCV003309330 uncertain significance not provided 2022-05-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 117 of the GNAS protein (p.Val117Met). This variant has not been reported in the literature in individuals affected with GNAS-related conditions. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 445504).
GeneDx RCV000514466 SCV005870333 likely pathogenic not provided 2024-08-19 criteria provided, single submitter clinical testing Identified as maternally inherited in a patient with musculoskeletal anomaly, but additional clinical information was not included (PMID: 36360262); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36360262)

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