Submissions for variant NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)

gnomAD frequency: 0.00001  dbSNP: rs878864531

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000673133	SCV000798301	pathogenic	Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2018-03-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001381202	SCV001579503	pathogenic	not provided	2023-08-11	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557045). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 9382091, 23451239). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg1861*) 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).
Fulgent Genetics, Fulgent Genetics	RCV002507176	SCV002809872	pathogenic	Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2024-06-06	criteria provided, single submitter	clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003089	SCV001161150	pathogenic	Usher syndrome type 1	2019-06-23	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV001381202	SCV001919285	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001381202	SCV001955355	pathogenic	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001835911	SCV002088511	pathogenic	Usher syndrome type 1B	2021-04-19	no assertion criteria provided	clinical testing