ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)

gnomAD frequency: 0.00006  dbSNP: rs202189540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310642 SCV000369326 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000368130 SCV000369327 likely benign Permanent neonatal diabetes mellitus 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000273521 SCV000369328 likely benign Diabetes mellitus, transient neonatal, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV004021505 SCV004910176 uncertain significance Inborn genetic diseases 2023-03-09 criteria provided, single submitter clinical testing The c.2422C>A (p.Q808K) alteration is located in exon 20 (coding exon 20) of the ABCC8 gene. This alteration results from a C to A substitution at nucleotide position 2422, causing the glutamine (Q) at amino acid position 808 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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