ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.578C>T (rs111033348)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005101 SCV000799426 likely pathogenic Pendred syndrome 2018-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000036499 SCV000894402 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Pendred syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001389159 SCV001590425 pathogenic not provided 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 193 of the SLC26A4 protein (p.Thr193Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs111033348, ExAC 0.009%). This variant has been observed in individual(s) with SLC26A4-related conditions (PMID: 10878664, 28964290, 26752218, 20597900). It has also been observed to segregate with disease in related individuals. This variant is also known as 801C>T. ClinVar contains an entry for this variant (Variation ID: 4830). 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. Experimental studies have shown that this variant affects SLC26A4 protein function (PMID: 31599023, 26752218). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005101 SCV000025277 pathogenic Pendred syndrome 2000-06-01 no assertion criteria provided literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000824763 SCV000060154 pathogenic Rare genetic deafness 2007-05-18 no assertion criteria provided clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770869 SCV000902381 likely pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV000770869 SCV000994872 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided literature only in vitro experiment

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