ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) (rs111033423)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036459 SCV000060114 benign not specified 2017-04-25 criteria provided, single submitter clinical testing The p.Gly6Val variant in exon 2 of SLC26A4: This variant is not expected to have clinical significance because it has been identified in 1.6% (398/25068) of Sou th Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs111033423).
Counsyl RCV000169379 SCV000220767 likely benign Pendred syndrome 2014-10-17 criteria provided, single submitter literature only
GeneDx RCV000757777 SCV000731038 benign not provided 2019-09-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28444304, 20597900, 25991456, 26188157, 20601923)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757777 SCV000886132 likely benign not provided 2018-01-23 criteria provided, single submitter clinical testing The c.17G>T; p.Gly6Val variant (rs111033423, ClinVar variant ID 43524) has been reported in patients with hearing loss (Pourova 2010, Tang 2015) and congenital hypothyroidism (de Filippis 2017); however, it was also detected at a similar frequency in a control population (Pourova 2010). This variant is listed in the genome Aggregation Database (gnomAD) with a South Asian population frequency of 1.6% (identified on 398 out of 25,068 chromosomes, including 6 homozygotes). The glycine at position 6 is weakly conserved, considering 12 species, and computational analyses of the effects of the p.Gly6Val variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the p.Gly6Val variant is likely to be benign.
Invitae RCV000757777 SCV001067872 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000169379 SCV001326716 benign Pendred syndrome 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001164583 SCV001326717 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-04-28 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.

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