ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) (rs200455203)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169245 SCV000220524 likely pathogenic Pendred syndrome 2014-07-17 criteria provided, single submitter literature only
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center RCV000515737 SCV000611821 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-07-01 criteria provided, single submitter clinical testing
Invitae RCV001048975 SCV001213005 pathogenic not provided 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 659 of the SLC26A4 protein (p.Val659Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs200455203, ExAC 0.01%). This variant has been observed in individual(s) with enlarged vestibular aqueduct (PMID: 17443271, 21366435, 21961810, 22289209, 23385134, 25372295, 25266519, 26100058). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 188889). 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: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000515737 SCV000902378 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 RCV000515737 SCV000994902 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided clinical testing in vitro experiment

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