ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala)

gnomAD frequency: 0.00002  dbSNP: rs200712253
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674896 SCV000800306 uncertain significance Pendred syndrome 2018-06-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764680 SCV000895811 uncertain significance Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785701 SCV002027021 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000674896 SCV002027022 uncertain significance Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV002532167 SCV003440151 uncertain significance not provided 2022-05-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 670 of the SLC26A4 protein (p.Val670Ala). This variant is present in population databases (rs200712253, gnomAD 0.1%). This missense change has been observed in individual(s) with clinical features of Pendred syndrome (PMID: 25372295). ClinVar contains an entry for this variant (Variation ID: 558599). 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 not expected to disrupt SLC26A4 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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