ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) (rs777333979)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411792 SCV000485931 likely pathogenic Pendred syndrome 2016-03-01 criteria provided, single submitter clinical testing
Invitae RCV001210974 SCV001382492 likely pathogenic not provided 2019-05-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 387 of the SLC26A4 protein (p.Ala387Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs777333979, ExAC 0.01%). This variant has been observed in individuals affected with SLC26A4-related conditions (PMID: 15933521, 22796198, 25372295). ClinVar contains an entry for this variant (Variation ID: 370578). 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: Probably Damaging; Align-GVGD: Class C0). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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