ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) (rs111033193)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV000671670 SCV001164261 likely benign Pendred syndrome 2019-07-29 reviewed by expert panel curation The SLC26A4 p.Asn538Asn variant has been reported in the heterozygous state in one individual with unilateral hearing loss (PMID: 20621367). However, this variant is synonymous and is not predicted by computational prediction analysis, using MaxEntScan, to impact splicing (BP4, BP7). The filtering allele frequency (the lower threshold of the 95% CI of 60/24964) of the p.Asn538Asn variant in SLC26A4 is 0.19168% for African chromosomes in gnomAD, which is a higher frequency than would be expected for an autosomal recessive pathogenic variant based on the thresholds defined by the ClinGen Hearing Loss Expert Panel (BS1_Supporting; http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 43517). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BS1_Supporting, BP4, BP7.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036452 SCV000060107 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725035 SCV000333398 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000725035 SCV000730597 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30245029, 20621367)
Counsyl RCV000671670 SCV000796666 uncertain significance Pendred syndrome 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000725035 SCV001028059 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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