ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)

dbSNP: rs121908366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002476930 SCV002785735 pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV002512793 SCV003440148 pathogenic not provided 2023-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 15689455, 25394566, 26969326). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC26A4 protein function. ClinVar contains an entry for this variant (Variation ID: 4841). This missense change has been observed in individuals with SLC26A4-related conditions (PMID: 18285825). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 514 of the SLC26A4 protein (p.Gln514Lys).
OMIM RCV000005113 SCV000025290 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2008-08-01 no assertion criteria provided literature only
GeneReviews RCV001753402 SCV000153991 not provided Pendred syndrome no assertion provided literature only

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