ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) (rs145467740)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel, RCV000275313 SCV000927023 benign Pendred syndrome 2019-02-25 reviewed by expert panel curation The filtering allele frequency of the p.Ala357Thr variant in the SLC26A4 gene is 0.47% for African chromosomes by gnomAD (136/24968 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive Pendred syndrome variants (BA1). The REVEL computational prediction analysis tool produces a score of 0.849, which is above the threshold necessary to apply PP3; however, this information is not predictive of pathogenicity on its own and is not considered in conflict with evidence that supports a benign interpretation. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BA1.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036422 SCV000060077 benign not specified 2016-05-02 criteria provided, single submitter clinical testing p.Ala357Thr in exon 9 of SLC26A4: This variant is not expected to have clinical significance because it has been identified in 0.5% (53/10406) of African Americ an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti; dbSNP rs145467740). In addition, this variant was found in a patient w ith two pathogenic variants which sufficiently explained their hearing loss.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036422 SCV000339669 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367654 SCV000466096 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275313 SCV000466097 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing

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