ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)

gnomAD frequency: 0.00001  dbSNP: rs376535635
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000408981 SCV000487466 likely pathogenic Usher syndrome type 1 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000410532 SCV000487467 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2 2016-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850975 SCV002238560 pathogenic not provided 2023-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1088*) 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). This variant is present in population databases (rs376535635, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with deafness, inherited retinal disease, and/or Usher syndrome (PMID: 23591405, 30358468, 31456290, 32860223). ClinVar contains an entry for this variant (Variation ID: 371695). For these reasons, this variant has been classified as Pathogenic.
The Shared Resource Centre "Genome", Research Centre for Medical Genetics RCV000410532 SCV002756446 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2022-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010299 SCV005632236 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-02-07 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV000408981 SCV001161147 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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