ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) (rs199588131)

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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 RCV000036464 SCV000060119 uncertain significance not specified 2010-09-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp661Glu varia nt in SLC26A4 has been observed in one Asian individual with hearing loss and re tinal disease. This individual did not have a variant on the second copy of the SLC26A4 gene. Computational analyses (biochemical amino acid properties, homolog y, PolyPhen, SIFT, AlignGVGD) do not provide strong support for or against patho genicity. In summary, the clinical significance of this variant cannot be determ ined at this time; however, given the lack of association between SLC26A4 varian ts and retinal disease, the variant is more likley benign.
Counsyl RCV000667285 SCV000791711 uncertain significance Pendred syndrome 2017-05-30 criteria provided, single submitter clinical testing

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