ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)

dbSNP: rs730882120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670058 SCV000794871 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2017-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515117 SCV003442502 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 461 of the MKS1 protein (p.Tyr461Cys). This variant is present in population databases (rs730882120, gnomAD 0.007%). This missense change has been observed in individual(s) with MKS1-related conditions (PMID: 24608809). ClinVar contains an entry for this variant (Variation ID: 183011). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MKS1 protein function. 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.
OMIM RCV000161134 SCV000211852 pathogenic Bardet-Biedl syndrome 13 2014-01-01 no assertion criteria provided literature only

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