ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter)

dbSNP: rs2046392476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Hearing Loss Research Unit, University of Madras RCV001250120 SCV001366122 pathogenic Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter case-control The variant p.Y1981X was observed along with another MYO15A variant p.L1485P, in compound heterozygous state, in the affected individuals. Hence, reporting this heterozygous variant in Autosomal recessive Hearing Loss.
Labcorp Genetics (formerly Invitae), Labcorp RCV003574862 SCV004337680 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1891*) in the MYO15A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO15A are known to be pathogenic (PMID: 17546645). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 34374074). ClinVar contains an entry for this variant (Variation ID: 973491). For these reasons, this variant has been classified as Pathogenic.

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