ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)

dbSNP: rs1057516953
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411778 SCV000486495 pathogenic Pendred syndrome 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV001850953 SCV002245845 pathogenic not provided 2021-09-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 371034). This missense change has been observed in individual(s) with SLC26A4-related conditions (PMID: 17718863, 23385134, 24245694). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 94 of the SLC26A4 protein (p.Thr94Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000770857 SCV004204241 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2022-12-03 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000770857 SCV000902363 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2019-02-26 no assertion criteria provided case-control

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