ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs)

dbSNP: rs2133487890
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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 RCV001383791 SCV001583058 pathogenic not provided 2023-01-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071339). This variant has not been reported in the literature in individuals affected with ABCC8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser752Profs*29) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197).
Baylor Genetics RCV003469702 SCV004193852 likely pathogenic Type 2 diabetes mellitus 2023-08-24 criteria provided, single submitter clinical testing

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