ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1127C>T (p.Thr376Met)

gnomAD frequency: 0.00001  dbSNP: rs200350173
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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 RCV001239403 SCV001412278 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-07-17 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MKS1 protein function. ClinVar contains an entry for this variant (Variation ID: 965044). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. This variant is present in population databases (rs200350173, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 376 of the MKS1 protein (p.Thr376Met).
Natera, Inc. RCV001834087 SCV002087633 uncertain significance Meckel syndrome, type 1 2020-07-08 no assertion criteria provided clinical testing

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