ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) (rs111033255)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036483 SCV000060138 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing p.Arg776Cys in exon 21 of SLC26A4: This variant has been reported in six proband s with non-syndromic hearing loss with/without EVA (Pryor 2005, Choi 2009, Hutch in 2005, Pourova 2010). However, haplotype analysis in one of the reported famil ies showed inconsistent segregation of the SLC26A4 gene in an affected sibling, suggesting that SLC26A4 mutations were not the primary cause of hearing loss in that family. This variant has been identified in 0.5% (33/6614) of Finnish chro mosomes and in 0.3% (192/66740) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs111033255). In addit ion, this variant has now been identified in our laboratory in 2 patients with a nother genetic cause of their hearing loss. In addition, two independent functio nal studies show that the variant allele had a similar function to wildtype (Pfa rr 2006, Choi 2009). In summary, the current data suggest that this variant is l ikely benign.
GeneDx RCV000036483 SCV000730014 likely benign not specified 2017-12-19 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036483 SCV000854862 likely benign not specified 2017-08-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282961 SCV000886133 likely benign none provided 2020-02-03 criteria provided, single submitter clinical testing
Invitae RCV000757778 SCV001023699 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159992 SCV001321753 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001159993 SCV001321754 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001159992 SCV001463985 uncertain significance Pendred syndrome 2020-01-02 no assertion criteria provided clinical testing

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