ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs)

dbSNP: rs2046704290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV001265211 SCV001443268 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2020-10-27 criteria provided, single submitter research Recessive, congenital SNHL
Labcorp Genetics (formerly Invitae), Labcorp RCV003669221 SCV004388407 pathogenic not provided 2023-04-10 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: 984792). This premature translational stop signal has been observed in individual(s) with autosomal recessive nonsyndromic deafness (PMID: 33398081). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala2968Profs*33) 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).

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