ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys)

gnomAD frequency: 0.00003  dbSNP: rs1005498417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960465 SCV002220298 likely benign Noonan syndrome 9 2024-10-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003120767 SCV003801036 uncertain significance not specified 2023-01-25 criteria provided, single submitter clinical testing Variant summary: SOS2 c.3814C>T (p.Arg1272Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251480 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3814C>T in individuals affected with Noonan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV003170074 SCV003857631 uncertain significance Cardiovascular phenotype 2022-12-06 criteria provided, single submitter clinical testing The p.R1272C variant (also known as c.3814C>T), located in coding exon 23 of the SOS2 gene, results from a C to T substitution at nucleotide position 3814. The arginine at codon 1272 is replaced by cysteine, an amino acid with highly dissimilar 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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