ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3305G>A (p.Cys1102Tyr)

dbSNP: rs2124475187
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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 RCV002038864 SCV002313656 uncertain significance RASopathy 2021-06-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SOS1-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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 1102 of the SOS1 protein (p.Cys1102Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine.

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