ClinVar Miner

Submissions for variant NC_000007.14:g.107683456C>T

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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 RCV000826039 SCV000967530 uncertain significance not specified 2019-02-14 criteria provided, single submitter clinical testing The p.Thr307Met variant in SLC26A4 has been reported in one compound heterozygou s individual with nonsyndromic hearing loss and EVA. However, a third variant in SLC26A4 was identified in cis with the p.Thr307Met variant in this patient (Alb ert 2006). The variant has also been reported in the heterozygous state in three individuals with nonsyndromic hearing loss ( Pera 2008, Du 2014), one of whom a lso carried a second variant in SLC26A4 in cis with this variant (Pera 2008). Th e p.Thr307Met has also been identified in 0.023% (7/30604) of South Asian chromo somes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction too ls and conservation analysis suggest that this variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of this variant is uncertain. ACMG/AMP Criteri a applied: PM2_Supporting, PP3.

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