ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1597C>T (p.Arg533Cys)

gnomAD frequency: 0.00009  dbSNP: rs745946583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729054 SCV000856690 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533097 SCV003445629 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 533 of the MKS1 protein (p.Arg533Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs745946583, ExAC 0.03%), including at least one homozygous and/or hemizygous individual. 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: 593886). 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: "Possibly 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.
Fulgent Genetics, Fulgent Genetics RCV005027902 SCV005649597 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535817 SCV004116359 uncertain significance MKS1-related disorder 2024-06-03 no assertion criteria provided clinical testing The MKS1 c.1597C>T variant is predicted to result in the amino acid substitution p.Arg533Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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