ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1408-3C>T

gnomAD frequency: 0.00019  dbSNP: rs377033273
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732956 SCV000860958 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001054620 SCV001218965 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the MKS1 gene. It does not directly 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 (rs377033273, gnomAD 0.08%). 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: 596972). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 RCV005021139 SCV005647317 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-06-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825476 SCV002087620 uncertain significance Meckel syndrome, type 1 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535861 SCV004728471 likely benign MKS1-related disorder 2019-09-27 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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