ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)

gnomAD frequency: 0.00004  dbSNP: rs1270302810
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002464058 SCV002759212 likely pathogenic not provided 2022-11-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein elongation as the last 6 amino acids are lost and replaced with 28 incorrect amino acids; This variant is associated with the following publications: (PMID: 17851452, 34652575)
Fulgent Genetics, Fulgent Genetics RCV000007376 SCV002800968 likely pathogenic Autosomal recessive nonsyndromic hearing loss 3 2022-05-20 criteria provided, single submitter clinical testing
Invitae RCV002464058 SCV004298182 pathogenic not provided 2024-01-07 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MYO15A gene (p.Ser3525Alafs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the MYO15A protein and extend the protein by 22 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.02%). This frameshift has been observed in individual(s) with deafness (PMID: 17851452). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6961). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007376 SCV000027575 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2008-01-01 no assertion criteria provided literature only

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