ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NxGen MDx RCV001374700 SCV001571612 uncertain significance Pendred syndrome 2021-03-26 criteria provided, single submitter clinical testing This missense variant (c.1439T>A) in the first codon of exon 13 on SLC26A4 results in a similarly sized residue but changes from nonpolar to negatively charged (p.Val480Asp). This variant is not found in gnomAD exomes (PM2) and has been predicted to be pathogenic by numerous in silico models (PP3). This variant was first reported in Scott et al., PMID 10861298, in trans with L236P in a patient presenting non-syndromic hearing loss. Functional assessment of V480D in Xenopus laevis oocytes in the same report indicated significant residual activity that increased proportionally with V480D protein concentration.

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