ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003294170 SCV004005279 uncertain significance Cardiovascular phenotype 2023-05-29 criteria provided, single submitter clinical testing The p.D555N variant (also known as c.1663G>A), located in coding exon 10 of the SOS1 gene, results from a G to A substitution at nucleotide position 1663. The aspartic acid at codon 555 is replaced by asparagine, 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.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261088 SCV001438490 likely benign Noonan syndrome no assertion criteria provided clinical testing

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