ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) (rs764791809)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216093 SCV000272440 uncertain significance not specified 2017-06-26 criteria provided, single submitter clinical testing The p.Glu773Lys variant in SLC26A4 has been previously identified by our laborat ory in 1 Asian individual with hearing loss and an alternate explanation for the hearing loss. This variant has been identified in 1/17244 East Asian chromosome s by the Genome Aggregation Database (gnomAD,; dbSNP rs764791809. Although this variant has been seen in the general populatio n, its frequency is not high enough to rule out a pathogenic role. This variant is located in the last three bases of the exon, which is part of the 5' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. Additional comp utational prediction tools and conservation analysis do not provide strong suppo rt for or against an impact to the protein. In summary, the clinical significanc e of the p.Glu2066Lys variant is uncertain.
GenomeConnect, ClinGen RCV000509100 SCV000606913 not provided Hearing loss no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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