ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) (rs111033316)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000320959 SCV000329521 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect; L90P interferes with proper localization of the SLC26A4 protein (Choi et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26969326, 15689455, 19204907, 25394566, 19318451, 23555729)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507599 SCV000605151 pathogenic not specified 2017-03-02 criteria provided, single submitter clinical testing
Invitae RCV000320959 SCV001225432 pathogenic not provided 2020-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 514 of the SLC26A4 protein (p.Gln514Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs111033316, ExAC 0.01%). This variant has been observed in individual(s) with Pendred syndrome (PMID: 15689455, 25394566, 26969326). ClinVar contains an entry for this variant (Variation ID: 43511). This variant has been reported to affect SLC26A4 protein function (PMID: 19204907). This variant disrupts the p.Gln514 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18285825, 19017801). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036445 SCV000060100 likely pathogenic Rare genetic deafness 2009-06-03 no assertion criteria provided clinical testing
Counsyl RCV000666548 SCV000790855 likely pathogenic Pendred syndrome 2017-04-12 no assertion criteria provided clinical testing

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