ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3722A>G (p.Lys1241Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003221675 SCV003918626 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003340667 SCV004057912 uncertain significance Cardiovascular phenotype 2023-07-27 criteria provided, single submitter clinical testing The p.K1241R variant (also known as c.3722A>G), located in coding exon 23 of the SOS1 gene, results from an A to G substitution at nucleotide position 3722. The lysine at codon 1241 is replaced by arginine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003655409 SCV004551177 likely benign RASopathy 2024-01-24 criteria provided, single submitter clinical testing

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