ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.1143+6T>C

gnomAD frequency: 0.00001  dbSNP: rs1394158081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972255 SCV002212685 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with MAK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 8 of the MAK gene. It does not directly change the encoded amino acid sequence of the MAK protein. It affects a nucleotide within the consensus splice site of the intron.
Institute of Human Genetics, University of Leipzig Medical Center RCV003388846 SCV004100788 uncertain significance Retinitis pigmentosa 62 2023-10-23 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PM3_SUP,PP3

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