ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.399A>G (p.Arg133=)

gnomAD frequency: 0.00001  dbSNP: rs746378310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001931494 SCV002201479 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change affects codon 133 of the MKS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MKS1 protein. This variant is present in population databases (rs746378310, 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: 1430414). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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