ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.728C>T (p.Thr243Met)

gnomAD frequency: 0.00001  dbSNP: rs749668169
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729482 SCV000857149 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578718 SCV001806007 uncertain significance Bardet-Biedl syndrome 13 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578755 SCV001806056 uncertain significance Joubert syndrome 28 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578756 SCV001806057 uncertain significance Meckel syndrome, type 1 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535120 SCV003270198 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 243 of the MKS1 protein (p.Thr243Met). This variant is present in population databases (rs749668169, gnomAD 0.006%). 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: 594241). 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.
PreventionGenetics, part of Exact Sciences RCV004733027 SCV005360965 uncertain significance MKS1-related disorder 2024-08-19 no assertion criteria provided clinical testing The MKS1 c.728C>T variant is predicted to result in the amino acid substitution p.Thr243Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian 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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