ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.31G>C (p.Gly11Arg)

dbSNP: rs762103206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937323 SCV002132041 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 11 of the MKS1 protein (p.Gly11Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of Joubert syndrome (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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