ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)

gnomAD frequency: 0.00017  dbSNP: rs150946659
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724401 SCV000232961 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000180506 SCV000710877 uncertain significance not specified 2016-09-22 criteria provided, single submitter clinical testing The p.Ser347Leu variant in SLC26A4 has not been previously reported in individua ls with hearing loss or Pendred syndrome. This variant has been identified in 2/ 10406 African chromosomes 6/66702 by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs150946659). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser347Leu varian t is uncertain.
Illumina Laboratory Services, Illumina RCV001159775 SCV001321506 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001159776 SCV001321507 uncertain significance Pendred syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000724401 SCV001692511 likely benign not provided 2024-06-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001159775 SCV002027073 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001159776 SCV002027084 uncertain significance Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165379 SCV003867325 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.1040C>T (p.S347L) alteration is located in exon 9 (coding exon 8) of the SLC26A4 gene. This alteration results from a C to T substitution at nucleotide position 1040, causing the serine (S) at amino acid position 347 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001159776 SCV001455807 uncertain significance Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.