ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1362_1369dup (p.Val457fs)

dbSNP: rs2122220042
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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 RCV002016901 SCV002299780 likely pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2021-01-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the MKKS protein. Other variant(s) that disrupt this region (p.Ser479*, p.Leu493Cysfs*21, p.Gln550*) have been observed in individuals with MKKS-related conditions (PMID: 15770229, 30614526, 20177705). This suggests that this may be a clinically significant region of the protein. This variant has not been reported in the literature in individuals with MKKS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val457Glufs*8) in the MKKS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 114 amino acid(s) of the MKKS protein.

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