ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.376G>A (p.Val126Ile)

gnomAD frequency: 0.00001  dbSNP: rs755770649
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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 RCV000780745 SCV000918257 uncertain significance not specified 2017-10-04 criteria provided, single submitter clinical testing Variant summary: The SOS1 c.376G>A (p.Val126Ile) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 2/246036 control chromosomes at a frequency of 0.0000081, which does not exceed the estimated maximal expected allele frequency of a pathogenic SOS1 variant (0.00003). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856190 SCV002227872 likely benign RASopathy 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV002267023 SCV002549193 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV002468036 SCV002763586 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468035 SCV002763587 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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