ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1161+3A>G

gnomAD frequency: 0.00036  dbSNP: rs192968747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066770 SCV001231790 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the MKKS gene. It does not directly change the encoded amino acid sequence of the MKKS protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs192968747, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MKKS-related conditions. ClinVar contains an entry for this variant (Variation ID: 860468). 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.
Baylor Genetics RCV001332285 SCV001524545 uncertain significance Bardet-Biedl syndrome 6 2020-11-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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