ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp)

gnomAD frequency: 0.00001  dbSNP: rs748406509
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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) RCV000593854 SCV000708611 uncertain significance not provided 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001037560 SCV001200979 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 543 of the MKS1 protein (p.Arg543Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs748406509, ExAC 0.01%). 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: 502021). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV005027716 SCV005649595 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-04-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829682 SCV002087601 uncertain significance Meckel syndrome, type 1 2019-10-28 no assertion criteria provided clinical testing

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