ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2513G>A (p.Cys838Tyr)

gnomAD frequency: 0.00002  dbSNP: rs747801798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002034400 SCV002310874 uncertain significance RASopathy 2022-03-08 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 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"). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is present in population databases (rs747801798, gnomAD 0.01%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 838 of the SOS1 protein (p.Cys838Tyr).
Ambry Genetics RCV002427515 SCV002742529 uncertain significance Cardiovascular phenotype 2023-05-17 criteria provided, single submitter clinical testing The p.C838Y variant (also known as c.2513G>A), located in coding exon 16 of the SOS1 gene, results from a G to A substitution at nucleotide position 2513. The cysteine at codon 838 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468387 SCV002763290 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468386 SCV002763291 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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