ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter)

gnomAD frequency: 0.00001  dbSNP: rs1169954783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001328010 SCV001519343 likely pathogenic Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PVS1, PM2 / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
Labcorp Genetics (formerly Invitae), Labcorp RCV003698860 SCV004474885 pathogenic not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2336*) 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 autosomal recessive deafness (PMID: 34837038). ClinVar contains an entry for this variant (Variation ID: 1027553). For these reasons, this variant has been classified as Pathogenic.

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