ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.571-1G>T

dbSNP: rs386833485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001853038 SCV002238780 pathogenic not provided 2024-03-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the SLC26A3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC26A3 are known to be pathogenic (PMID: 9718329, 21394828). This variant is present in population databases (rs386833485, gnomAD 0.002%). Disruption of this splice site has been observed in individuals with congenital chloride diarrhea (PMID: 9718329). This variant is also known as IVS5-1G>T. ClinVar contains an entry for this variant (Variation ID: 56004). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genetics and Molecular Pathology, SA Pathology RCV000049413 SCV002761408 pathogenic Congenital secretory diarrhea, chloride type 2022-07-05 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049413 SCV000081846 probable-pathogenic Congenital secretory diarrhea, chloride type no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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