ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) (rs111033318)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169448 SCV000220869 likely pathogenic Pendred syndrome 2014-11-11 criteria provided, single submitter literature only
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170043 SCV001251821 likely pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
Invitae RCV001170043 SCV001385304 pathogenic not provided 2019-06-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with glutamine at codon 676 of the SLC26A4 protein (p.Leu676Gln). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another SLC26A4 variant in several individuals affected with Pendred syndrome and/or nonsyndromic enlarged vestibular aqueduct (PMID: 12676893, 14715652, 21961810). 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: 43533). This variant has been reported to affect SLC26A4 protein function (PMID: 14715652, 18310264). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036468 SCV000060123 pathogenic Rare genetic deafness 2007-06-19 no assertion criteria provided clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770856 SCV000902360 likely pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control
Natera, Inc. RCV000169448 SCV001459937 pathogenic Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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