ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly)

dbSNP: rs1293079271
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587660 SCV000698638 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing Variant summary: The c.3724A>G (p.Ser1241Gly) in BSOS1 gene is a missense variant involves a mildly conserved nucleotide and 3/5 in silico tools predict benign outcome, however no functional studies supporting these predictions were published at the time of evaluation. The variant is located within the domain of unknown function, which functionality is yet to be elucidated. The variant is absent from the control population dataset of ExAC, but is present at a low frequency in gnomAD dataset (0.000004070; 1/245718 chrs tested), which does not exceed the maximal expected allele frequency for a disease causing allele in SOS1 gene (0.00003). To our knowledge, the variant has not been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Taken together, the variant was classified as VUS, until new information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV001867910 SCV002121737 likely benign RASopathy 2022-03-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467910 SCV002763546 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467909 SCV002763547 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Ambry Genetics RCV004669048 SCV005170301 uncertain significance Cardiovascular phenotype 2024-06-09 criteria provided, single submitter clinical testing The p.S1242G variant (also known as c.3724A>G), located in coding exon 23 of the SOS1 gene, results from an A to G substitution at nucleotide position 3724. The serine at codon 1242 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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