ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.1366_1367del (p.Lys456fs)

dbSNP: rs935003657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998535 SCV001154661 likely pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000998535 SCV001591415 pathogenic not provided 2023-07-18 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys456Glufs*11) in the MAK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAK are known to be pathogenic (PMID: 21148103, 21825139, 24938718, 29781741). This variant has not been reported in the literature in individuals affected with MAK-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 809877).

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