Submissions for variant NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)

dbSNP: rs1253943370

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000665547	SCV000789689	likely pathogenic	Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2017-02-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001868204	SCV002190412	pathogenic	not provided	2024-02-24	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp1192*) 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 Usher syndrome or deafness (PMID: 29625443, 31035849, 31541171). ClinVar contains an entry for this variant (Variation ID: 550723). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005004326	SCV005632245	pathogenic	Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2023-12-28	criteria provided, single submitter	clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	RCV000770843	SCV000902344	pathogenic	Autosomal recessive nonsyndromic hearing loss 2	2019-02-26	no assertion criteria provided	case-control