ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe)

dbSNP: rs151074097
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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 RCV002002579 SCV002247779 likely benign Noonan syndrome 9 2022-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003375503 SCV004096319 uncertain significance Cardiovascular phenotype 2023-06-22 criteria provided, single submitter clinical testing The p.L777F variant (also known as c.2329C>T), located in coding exon 14 of the SOS2 gene, results from a C to T substitution at nucleotide position 2329. The leucine at codon 777 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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