ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.183del (p.Thr62fs)

dbSNP: rs1446588093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988598 SCV001138377 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549717 SCV003440569 pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 802701). This premature translational stop signal has been observed in individual(s) with MYO7A-related conditions (PMID: 27460420, 31479088). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr62Argfs*9) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053).

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