ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)

dbSNP: rs530520654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520405 SCV000620436 pathogenic not provided 2024-10-31 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29099798, 32747562, 33528536)
Mendelics RCV000988614 SCV001138393 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000520405 SCV001582556 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1699*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 451703). This premature translational stop signal has been observed in individual(s) with autosomal recessive MYO7A-related conditions (PMID: 29099798, 32747562).
King Laboratory, University of Washington RCV000988614 SCV002059931 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2020-08-01 criteria provided, single submitter research MYO7A c.5095C>T, p.Q1699* is compound heterozygous with MYO7A c.700C>T, p.Q234* in a Palestinian father and son, both with profound pre-lingual hearing loss (Abu Rayyan 2020). (Trans orientation was established from genotypes of other family members.) The variant is absent from 1300 Palestinian controls and absent from gnomAD v2.1.1.

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