ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr) (rs397516425)

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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 RCV000036465 SCV000060120 uncertain significance not specified 2010-10-05 criteria provided, single submitter clinical testing The Ser666Thr variant in SLC26A4 has not been reported in the literature nor pre viously identified by our laboratory. However, a different amino acid change at this location (Ser666Phe) has previously been reported to be pathogenic (Ishihar a 2010, Tsukamoto 2003), which increases the likelihood that this variant is als o pathogenic. However, computational analyses (PolyPhen, SIFT, AlignGVGD) sugges t this variant is less likely to impact to the protein though this information i s not very predictive of pathogenicity. This residue is conserved in mammals tho ugh not in lower species. In summary, the clinical significance of this variant cannot be determined with certainty at this time.

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