ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.821C>T (p.Pro274Leu)

gnomAD frequency: 0.00003  dbSNP: rs770088105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232790 SCV001405358 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834020 SCV002087644 uncertain significance Meckel syndrome, type 1 2020-10-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004545141 SCV004770486 uncertain significance MKS1-related disorder 2024-02-14 no assertion criteria provided clinical testing The MKS1 c.821C>T variant is predicted to result in the amino acid substitution p.Pro274Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.089% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. This variant could be benign. 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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