ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1007T>C (p.Val336Ala)

dbSNP: rs772205041
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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 RCV001245319 SCV001418600 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 336 of the MKS1 protein (p.Val336Ala). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 969878). 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: "Benign"; Align-GVGD: "Class C25"). 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. RCV001829956 SCV002087635 uncertain significance Meckel syndrome, type 1 2021-10-11 no assertion criteria provided clinical testing

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