ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.818G>A (p.Gly273Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002905036 SCV003267010 uncertain significance RASopathy 2022-02-11 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 273 of the SOS1 protein (p.Gly273Asp).
PreventionGenetics, part of Exact Sciences RCV003418659 SCV004106927 uncertain significance SOS1-related disorder 2023-07-13 criteria provided, single submitter clinical testing The SOS1 c.818G>A variant is predicted to result in the amino acid substitution p.Gly273Asp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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