ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3921del (p.Gln1307fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004577376 SCV002603663 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2021-11-14 criteria provided, single submitter clinical testing NM_000352.3(ABCC8):c.3921delG(Q1307Hfs*5) is expected to be pathogenic in the context of familial hyperinsulinism, ABCC8-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ABCC8, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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