Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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, |
RCV001261150 | SCV001438559 | uncertain significance | Noonan syndrome | no assertion criteria provided | clinical testing |