ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter)

gnomAD frequency: 0.00001  dbSNP: rs1060499802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington RCV000454181 SCV002059934 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2020-08-01 criteria provided, single submitter research MYO7A c.6211C>T, p.Q2071* is homozygous in 3 Palestinian children from 3 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 RCV002522745 SCV003440300 pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 402266). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This premature translational stop signal has been observed in individual(s) with autosomal recessive nonsyndromic deafness (PMID: 24105371). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln2071*) 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).
Hereditary Research Laboratory, Bethlehem University RCV000454181 SCV000538105 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2016-06-04 no assertion criteria provided research severe-profound

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