ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) (rs1057516243)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410361 SCV000485346 likely pathogenic Pendred syndrome 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV001386694 SCV001587031 pathogenic not provided 2020-02-21 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 532 of the SLC26A4 protein (p.Ser532Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nonsyndromic enlarged vestibular aqueduct (PMID: 17718863, 23918157, 25372295). ClinVar contains an entry for this variant (Variation ID: 370114). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). This variant disrupts the p.Ser532 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17718863, 23918157, 25372295). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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