ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.957C>T (p.Val319=)

gnomAD frequency: 0.00001  dbSNP: rs770067106
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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 RCV001910444 SCV002188313 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change affects codon 319 of the MKS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MKS1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs770067106, gnomAD 0.007%). 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: 1419555). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Fulgent Genetics, Fulgent Genetics RCV005016846 SCV005647347 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733418 SCV005348577 likely benign MKS1-related disorder 2024-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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