ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser)

gnomAD frequency: 0.00001  dbSNP: rs553336498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490380 SCV000267559 uncertain significance Autosomal dominant nonsyndromic hearing loss 6 2016-03-18 criteria provided, single submitter reference population
Invitae RCV001300481 SCV001489622 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing 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. 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 WFS1 protein function. ClinVar contains an entry for this variant (Variation ID: 225514). This missense change has been observed in individual(s) with clinical features WFS1-related conditions (PMID: 16408729). This variant is present in population databases (rs553336498, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 616 of the WFS1 protein (p.Ala616Ser).

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