ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) (rs1045933779)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667731 SCV000792227 likely pathogenic Pendred syndrome 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV001226428 SCV001398741 likely pathogenic not provided 2020-01-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 729 of the SLC26A4 protein (p.Leu729Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with SLC26A4-related conditions (PMID: 23336812, 23401162, 25394566, 20146813). ClinVar contains an entry for this variant (Variation ID: 552468). 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: Possibly 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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