ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) (rs55638457)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036460 SCV000060115 benign not specified 2014-12-24 criteria provided, single submitter clinical testing p.Leu597Ser in exon 16 of SLC26A4: Although this variant has been reported in pa tients with Pendred syndrome and nonsyndromic hearing loss with enlarged vestibu lar aqueducts (EVA) (Campbell et al 2001, Fugazzola et al 2002, Blons 2004, Pryo r 2005), it has also been found in 2.7% (449/16590) of South Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs55638457). In addition, this variant has been identified by our laboratory in many individuals, none of whom had a pathogenic variant on the second allele. I n summary, this data meets our criteria to classify this variant as benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036460 SCV000337072 benign not specified 2015-10-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428613 SCV000511094 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000036460 SCV000514666 benign not specified 2016-05-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics,Fulgent Genetics RCV000755654 SCV000883054 likely benign Enlarged vestibular aqueduct; Pendred syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000428613 SCV001099053 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164805 SCV001326955 likely benign Pendred syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197464 SCV001368216 uncertain significance Hearing impairment; Incomplete partition of the cochlea type II 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant was detected in heterozygous state.

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