ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile)

gnomAD frequency: 0.00004  dbSNP: rs727503424
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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, Mass General Brigham Personalized Medicine RCV000151881 SCV000200376 uncertain significance not specified 2013-10-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr285Ile varia nt in SLC17A8 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Thr285Ile variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Of note, two distant species (zebra finch and tetraodon ) have an isoleucine (Ile) at this position. In summary, the clinical significan ce of this variant cannot be determined with certainty; however, based upon the conservation and computational data, we lean towards a more like benign role.
Athena Diagnostics RCV000993012 SCV001145693 uncertain significance not provided 2019-03-04 criteria provided, single submitter clinical testing

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