ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.214-18A>T

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Total submissions: 3
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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 RCV003988210 SCV004803594 likely benign not specified 2024-01-22 criteria provided, single submitter clinical testing Variant summary: SOS1 c.214-18A>T alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 247826 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.214-18A>T in individuals affected with Noonan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV004711995 SCV005263399 likely benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV005064931 SCV005724563 likely benign RASopathy 2024-05-07 criteria provided, single submitter clinical testing

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