ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.847G>C (p.Val283Leu)

dbSNP: rs976973396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204108 SCV001375299 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 283 of the MKS1 protein (p.Val283Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001828637 SCV002087641 uncertain significance Meckel syndrome, type 1 2020-11-02 no assertion criteria provided clinical testing

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