Submissions for variant NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter)

gnomAD frequency: 0.00041  dbSNP: rs576724182

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756725	SCV000884617	likely pathogenic	Autosomal recessive nonsyndromic hearing loss 16	2018-09-28	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV001169910	SCV001251857	pathogenic	not provided	2020-05-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000756725	SCV002763099	likely pathogenic	Autosomal recessive nonsyndromic hearing loss 16		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003424328	SCV004117508	likely pathogenic	STRC-related condition	2023-05-19	criteria provided, single submitter	clinical testing	The STRC c.3460C>T variant is predicted to result in premature protein termination (p.Arg1154*). To our knowledge, this variant has not been reported in the literature in patient's with STRC-related disease. This variant is reported in 0.15% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-43902548-G-A). Nonsense variants in STRC are expected to be pathogenic. This variant is interpreted as likely pathogenic.