ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.1819G>A (p.Gly607Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004720159 SCV005324919 likely pathogenic not provided 2023-09-07 criteria provided, single submitter clinical testing Published functional studies found this variant results in abnormal splicing leading to reduced mRNA and protein expression (Nagata K et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23808592, 29132416)
Suma Genomics RCV004759442 SCV005367935 uncertain significance Distal arthrogryposis type 5D criteria provided, single submitter clinical testing A missense variant c.1819G>A, p.(Gly607Ser) is observed in exon 13 of ECEL1 in trans with another variant. This variant is not observed in the gnomAD database. The in-silico analysis tool REVEL consistently predicts that this variant is disease-causing. ACMG criteria: PM2_Supporting and PP3

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