ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1544+9C>T (rs368970459)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151900 SCV000200407 benign not specified 2015-02-24 criteria provided, single submitter clinical testing 1544+9C>T in Intron 13 of SLC26A4: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 1.3% (213/16512) of South Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368970459 ).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000151900 SCV000708710 benign not specified 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000835659 SCV000977460 likely benign not provided 2018-06-08 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.
Invitae RCV000835659 SCV001055904 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164802 SCV001326952 uncertain significance Pendred syndrome 2017-04-28 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Broad Institute Rare Disease Group, Broad Institute RCV001164802 SCV001435186 likely benign Pendred syndrome criteria provided, single submitter research The heterozygous c.1544+9C>T variant in SLC26A4 has been identified in 3 individuals with Pendred syndrome (PMID: 21704276, 25214170, 21961810), but has also been identified in >1% of South Asian chromosomes and 2 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive Pendred syndrome.
Natera, Inc. RCV001164802 SCV001459873 likely benign Pendred syndrome 2020-06-14 no assertion criteria provided clinical testing

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