ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3732T>C (p.His1244=)

gnomAD frequency: 0.00001  dbSNP: rs1391583247
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423808 SCV001626394 likely benign RASopathy 2023-12-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844292 SCV002103790 likely benign not specified 2022-02-06 criteria provided, single submitter clinical testing Variant summary: SOS1 c.3732T>C alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 251046 control chromosomes. 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.3732T>C 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 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Genome-Nilou Lab RCV002468245 SCV002763544 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468244 SCV002763545 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995795 SCV005506076 likely benign Cardiovascular phenotype 2024-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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