ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs)

dbSNP: rs1347914291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513105 SCV000609194 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199705 SCV001162545 pathogenic Isolated macular dystrophy 2020-01-09 criteria provided, single submitter research
Invitae RCV000513105 SCV001207700 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn567Serfs*22) in the MAK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acid(s) of the MAK protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with macular dystrophy (PMID: 32531858). ClinVar contains an entry for this variant (Variation ID: 444672). 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.
Blueprint Genetics RCV001074305 SCV001239878 likely pathogenic Retinal dystrophy 2019-06-19 criteria provided, single submitter clinical testing

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