ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.1576TAT[1] (p.Tyr527del)

dbSNP: rs386833464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513681 SCV003440095 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing This variant, c.1579_1581del, results in the deletion of 1 amino acid(s) of the SLC26A3 protein (p.Tyr527del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs386833464, gnomAD 0.02%). This variant has been observed in individual(s) with congenital chloride diarrhea (PMID: 9554749). ClinVar contains an entry for this variant (Variation ID: 55982). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on SLC26A3 function (PMID: 18216024). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049391 SCV000081824 probable-pathogenic Congenital secretory diarrhea, chloride type no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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