ClinVar Miner

Submissions for variant NM_004114.5(FGF13):c.41G>C (p.Arg14Thr)

dbSNP: rs2090039606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004727086 SCV005333170 pathogenic not provided 2023-09-20 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on long-term inactivation of voltage-gated sodium channels (Fry et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33245860)
OMIM RCV001292556 SCV001481128 pathogenic Developmental and epileptic encephalopathy, 90 2021-02-19 no assertion criteria provided literature only

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