Submissions for variant NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)

dbSNP: rs786204581

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000169324	SCV000220657	likely pathogenic	Pendred syndrome	2014-08-28	criteria provided, single submitter	literature only
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000625825	SCV000746386	pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2019-01-01	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000169324	SCV000746470	likely pathogenic	Pendred syndrome	2017-12-03	criteria provided, single submitter	clinical testing
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	RCV000625825	SCV000924204	pathogenic	Autosomal recessive nonsyndromic hearing loss 4		criteria provided, single submitter	research
Genome-Nilou Lab	RCV000625825	SCV002026553	pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2021-09-05	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000625825	SCV004201820	pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2024-03-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003556211	SCV004294534	pathogenic	not provided	2023-10-23	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg79*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of SLC26A4-related conditions (PMID: 19648736, 26969326, 32645618, 34416374). ClinVar contains an entry for this variant (Variation ID: 188950). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	RCV000625825	SCV000902380	pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2019-02-26	no assertion criteria provided	case-control
Dr.Nikuei Genetic Center	RCV000625825	SCV005044507	pathogenic	Autosomal recessive nonsyndromic hearing loss 4		no assertion criteria provided	clinical testing