ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)

dbSNP: rs1060499801
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674950 SCV000800366 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-06-01 criteria provided, single submitter clinical testing
King Laboratory, University of Washington RCV000454216 SCV002059933 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2020-08-01 criteria provided, single submitter research MYO7A c.6196C>T, p.Q2066* is homozygous in 11 Palestinian children from 5 different families with severe to profound pre-lingual hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and absent from gnomAD v2.1.1.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522744 SCV003460080 pathogenic not provided 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2066*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 29490346). ClinVar contains an entry for this variant (Variation ID: 402265). For these reasons, this variant has been classified as Pathogenic.
Hereditary Research Laboratory, Bethlehem University RCV000454216 SCV000538103 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2016-06-04 no assertion criteria provided research congenital, profound
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003090 SCV001161151 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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