ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.94G>C (p.Gly32Arg)

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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 RCV003540349 SCV004323774 likely benign RASopathy 2023-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992671 SCV005506094 uncertain significance Cardiovascular phenotype 2024-08-07 criteria provided, single submitter clinical testing The p.G32R variant (also known as c.94G>C), located in coding exon 2 of the SOS1 gene, results from a G to C substitution at nucleotide position 94. The glycine at codon 32 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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