ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) (rs200102493)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036486 SCV000060141 uncertain significance not specified 2013-01-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro10Thr varian t in SLC26A4 has been reported in one individual with enlarged vestibular aquedu ct (EVA; Madden 2007). This individual also carried two additional variants in the SLC26A4 gene and it is unclear which of these variants, if any, are responsi ble for the EVA. Computational analyses (biochemical amino acid properties, cons ervation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Pro10Thr variant is u nlikely to impact the protein, though this information is not predictive enough to rule out pathogenicity. This variant has been identified in 0.12% (5/4116) of African American chromosomes in a broad population by the NHLBI Exome sequencin g project (http://evs.gs.washington.edu/EVS/; dbSNP rs200102493). Although this variant has been seen in the general population, its frequency is not high enoug h to rule out a pathogenic role. In summary, the clinical significance of this v ariant cannot be determined with certainty; however based upon the computational predictions and the presence of this variant in the general population, we woul d lean towards a more likely benign role.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723704 SCV000700620 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
Counsyl RCV000665402 SCV000789519 uncertain significance Pendred syndrome 2017-02-03 criteria provided, single submitter clinical testing

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