Submissions for variant NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter)

gnomAD frequency: 0.00001  dbSNP: rs548381313

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001723297	SCV002229992	pathogenic	not provided	2023-12-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln1097*) 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 (rs548381313, gnomAD 0.001%). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 28000701). ClinVar contains an entry for this variant (Variation ID: 1297516). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001723297	SCV004243397	pathogenic	not provided	2024-02-06	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005005996	SCV005632238	pathogenic	Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2024-05-05	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723297	SCV001951584	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723297	SCV001971858	pathogenic	not provided		no assertion criteria provided	clinical testing