ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2227G>C (p.Ala743Pro)

gnomAD frequency: 0.00001  dbSNP: rs759584440
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000328656 SCV000330131 uncertain significance not provided 2018-10-25 criteria provided, single submitter clinical testing The A743P variant in the SOS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A743P variant is observed in 3/111,390 (0.0027%) alleles from individuals of non-Finnish European background, in large population cohorts (Lek et al., 2016). The A743P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret A743P as a variant of uncertain significance.
Ambry Genetics RCV002429208 SCV002726305 uncertain significance Cardiovascular phenotype 2022-04-09 criteria provided, single submitter clinical testing The p.A743P variant (also known as c.2227G>C), located in coding exon 14 of the SOS1 gene, results from a G to C substitution at nucleotide position 2227. The alanine at codon 743 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002467702 SCV002763320 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467701 SCV002763321 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519046 SCV003286050 likely benign RASopathy 2023-07-27 criteria provided, single submitter clinical testing

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