ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1850T>C (p.Met617Thr)

dbSNP: rs775105134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654972 SCV000776882 uncertain significance RASopathy 2022-10-19 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 40688). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is present in population databases (rs775105134, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 617 of the SOS1 protein (p.Met617Thr).

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