ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) (rs35548413)

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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 RCV000036470 SCV000060125 uncertain significance not specified 2012-10-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Asp687Tyr v ariant in SLC26A4 has not been previously identified by our laboratory. One stud y has shown that the Asp687Tyr variant impacts protein function (Dossena 2011). Computational analyses (biochemical amino acid properties, conservation, AlignGV GD, PolyPhen2, and SIFT) also suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. Th is variant has been identified in 0.1% (6/4376) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs35548413); however, this frequency is not high enough to rule out a pathogenic role. In summary, the clinical significance of this var iant cannot be determined with certainty; however, based upon the functional dat a, we would lean towards a more likely pathogenic role.
Counsyl RCV000671555 SCV000796542 uncertain significance Pendred syndrome 2017-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001556359 SCV001777926 uncertain significance not provided 2021-05-10 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Dossena et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22116355, 28941661, 22116359)

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