ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys) (rs368119540)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000607312 SCV000711200 uncertain significance not specified 2017-06-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Trp640Cys variant in SLC26A4 has been identified by our laboratory in 2 individual with h earing loss, including 1 individual who carried a 2nd established pathogenic SLC 26A4 allele in trans with the p.Trp640Cys allele (this individual) and 1 individ ual with hearing loss and EVA, however a second SLC26A4 variant was not detected (LMM unpublished data). The variant has also been identified in 3/111444 Europe an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin; dbSNP rs769086004); however, this frequency is not high enough to r ule out a pathogenic role. Computational prediction tools and conservation analy sis suggest that the variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is som e suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PP3; PM2; PM3 (Richards 2015).

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