ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.1609del (p.Ile537fs)

dbSNP: rs386833465
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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 RCV003556121 SCV004295510 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile537Phefs*39) in the SLC26A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A3 are known to be pathogenic (PMID: 9718329, 21394828). This variant is present in population databases (rs386833465, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with congenital chloride diarrhea (PMID: 9718329). ClinVar contains an entry for this variant (Variation ID: 55983). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049392 SCV000081825 probable-pathogenic Congenital secretory diarrhea, chloride type no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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