ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)

gnomAD frequency: 0.00004  dbSNP: rs759961510
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580619 SCV001810241 uncertain significance Diabetes mellitus, permanent neonatal 3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580618 SCV001810242 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2021-07-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266006 SCV002547984 uncertain significance not specified 2022-05-06 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.3463G>A (p.Val1155Ile) results in a conservative amino acid change located in the ABC transporter type 1, transmembrane domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251014 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3463G>A has been reported in the literature in at least one individual affected with metabolic disorders. This report does not provide unequivocal conclusions about association of the variant with Familial Hyperinsulinism. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002495927 SCV002777115 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002569104 SCV003285304 likely benign not provided 2023-09-19 criteria provided, single submitter clinical testing

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