ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)

dbSNP: rs1064794250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329010 SCV001520296 likely pathogenic CHARGE association criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001375030 SCV001572318 uncertain significance Neurodevelopmental disorder 2006-10-20 criteria provided, single submitter clinical testing
GeneDx RCV001538538 SCV001756204 likely pathogenic not provided 2023-03-14 criteria provided, single submitter clinical testing 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; Other missense variants at the same residue (R2065S/G/H) and in nearby residues (R2062W, E2066K) reported in published literature or observed at GeneDx in patients with one or more features of CHARGE syndrome; however, the clinical significance of missense variants in this region remains uncertain (HGMD); This variant is associated with the following publications: (PMID: 29304373, 28475860, 25064402, 34348883, 25077900, 34297504)

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