ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)

gnomAD frequency: 0.00001  dbSNP: rs777641484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670213 SCV000795043 uncertain significance Pendred syndrome 2017-10-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472122 SCV004202424 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2022-02-25 criteria provided, single submitter clinical testing
Invitae RCV003558506 SCV004295503 pathogenic not provided 2022-11-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 554553). This missense change has been observed in individual(s) with Pendred syndrome (PMID: 15611902, 20601923). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs777641484, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 669 of the SLC26A4 protein (p.Asp669Asn).

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