Submissions for variant NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)

gnomAD frequency: 0.00545  dbSNP: rs55638457

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036460	SCV000060115	benign	not specified	2014-12-24	criteria provided, single submitter	clinical testing	p.Leu597Ser in exon 16 of SLC26A4: Although this variant has been reported in pa tients with Pendred syndrome and nonsyndromic hearing loss with enlarged vestibu lar aqueducts (EVA) (Campbell et al 2001, Fugazzola et al 2002, Blons 2004, Pryo r 2005), it has also been found in 2.7% (449/16590) of South Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs55638457). In addition, this variant has been identified by our laboratory in many individuals, none of whom had a pathogenic variant on the second allele. I n summary, this data meets our criteria to classify this variant as benign.
Eurofins Ntd Llc (ga)	RCV000036460	SCV000337072	benign	not specified	2015-10-28	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000428613	SCV000511094	likely benign	not provided	2016-09-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000036460	SCV000514666	benign	not specified	2016-05-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics	RCV000755654	SCV000883054	likely benign	Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000428613	SCV001099053	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001164805	SCV001326955	likely benign	Pendred syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197464	SCV001368216	uncertain significance	Autosomal recessive nonsyndromic hearing loss 4	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000428613	SCV001477642	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001164805	SCV001652837	likely benign	Pendred syndrome	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001197464	SCV002027306	likely benign	Autosomal recessive nonsyndromic hearing loss 4	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001164805	SCV002027317	likely benign	Pendred syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036460	SCV002050893	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000428613	SCV004010710	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SLC26A4: BS1, BS2
Natera, Inc.	RCV001164805	SCV001463979	benign	Pendred syndrome	2020-06-07	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036460	SCV001919910	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000428613	SCV001953548	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036460	SCV001972276	benign	not specified		no assertion criteria provided	clinical testing