Submissions for variant NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)

dbSNP: rs786204601

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000169357	SCV000220728	likely pathogenic	Pendred syndrome	2014-09-24	criteria provided, single submitter	literature only
Labcorp Genetics (formerly Invitae), Labcorp	RCV001237469	SCV001410230	pathogenic	not provided	2023-09-14	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu507*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 188978). This premature translational stop signal has been observed in individuals with sensorineural hearing loss (PMID: 21961810, 28786104). This variant is not present in population databases (gnomAD no frequency).
Genome-Nilou Lab	RCV000770865	SCV002026934	likely pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000169357	SCV002026935	likely pathogenic	Pendred syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000770865	SCV004201847	pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2024-03-14	criteria provided, single submitter	clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	RCV000770865	SCV000902374	pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2019-02-26	no assertion criteria provided	case-control
Natera, Inc.	RCV000169357	SCV002079999	pathogenic	Pendred syndrome	2021-02-23	no assertion criteria provided	clinical testing