ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1A>T (p.Met1Leu)

dbSNP: rs1561657261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704688 SCV000833646 uncertain significance Myofibrillar myopathy 3 2018-02-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MYOT-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the MYOT mRNA. The next in-frame methionine is located at codon 64. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYOT cause disease.

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