ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1269C>A (p.Asn423Lys)

dbSNP: rs138459502
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003283411 SCV004002683 uncertain significance Cardiovascular phenotype 2023-03-29 criteria provided, single submitter clinical testing The p.N423K variant (also known as c.1269C>A), located in coding exon 10 of the SOS1 gene, results from a C to A substitution at nucleotide position 1269. The asparagine at codon 423 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.

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