ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)

gnomAD frequency: 0.00001  dbSNP: rs773844428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178544 SCV000230644 pathogenic not provided 2015-01-20 criteria provided, single submitter clinical testing
Counsyl RCV000667070 SCV000791463 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-05-16 criteria provided, single submitter clinical testing
Invitae RCV000178544 SCV001589415 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln1990*) 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 (rs773844428, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 16963483). ClinVar contains an entry for this variant (Variation ID: 197497).

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