ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr) (rs397516412)

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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 RCV000036421 SCV000060076 uncertain significance not specified 2012-03-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala352Thr varia nt in SLC26A4 has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, co nservation, PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impa ct to the protein. However, this information is not predictive enough to rule ou t pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time; however, based upon the computational d ata, we would lean towards a more likely benign role.

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