ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)

dbSNP: rs1057516404
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409836 SCV000485603 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001380090 SCV001578035 pathogenic not provided 2020-12-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ABCC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 370329). This sequence change creates a premature translational stop signal (p.Trp1451*) 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).
Genetic Services Laboratory, University of Chicago RCV001380090 SCV002065880 pathogenic not provided 2021-09-23 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002244843 SCV002513323 uncertain risk allele Maturity onset diabetes mellitus in young 2024-05-27 criteria provided, single submitter research This variant is found to be a potent moderate impact variant with a CADD score of 44 and sufficient scientific evidence of gene-disease correlation. However, since this is not a high impact variant and no sufficient variant evidence is found, this variant is classified as Uncertain Risk Allele only.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV004556782 SCV002513324 uncertain risk allele Neonatal diabetes mellitus 2024-05-27 criteria provided, single submitter research This variant is found to be a potent moderate impact variant with a CADD score of 44 and sufficient scientific evidence of gene-disease correlation. However, since this is not a high impact variant and no sufficient variant evidence is found, this variant is classified as Uncertain Risk Allele only.
Baylor Genetics RCV003475943 SCV004203245 likely pathogenic Type 2 diabetes mellitus 2024-02-14 criteria provided, single submitter clinical testing

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