ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.307A>G (p.Met103Val)

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Total submissions: 2
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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 RCV001293615 SCV001482234 uncertain significance not specified 2021-02-08 criteria provided, single submitter clinical testing Variant summary: SHOC2 c.307A>G (p.Met103Val) results in a conservative amino acid change located in the Leucine-rich repeat domain superfamily (IPR032675) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251010 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.307A>G in individuals affected with Noonan Syndrome With Loose Anagen Hair and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261150 SCV001438559 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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