ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg)

dbSNP: rs587777161
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520512 SCV000617426 pathogenic not provided 2021-09-22 criteria provided, single submitter clinical testing Published functional studies demonstrate an almost abolishment of ClC-4 currents that lead to a damaging effect (Veeramah et al., 2013); Not observed in large population cohorts (Lek et al., 2016); 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: 23647072, 27550844)
CeGaT Center for Human Genetics Tuebingen RCV000520512 SCV001250199 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000087143 SCV002549848 pathogenic Intellectual disability, X-linked 49 2022-07-04 criteria provided, single submitter clinical testing This variant was identified as hemizygous._x000D_ Criteria applied: PS1, PS2, PM1, PS4_SUP, PM2_SUP, PP3
3billion RCV000087143 SCV004013605 pathogenic Intellectual disability, X-linked 49 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.88; 3Cnet: 0.99). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000100781 / PMID: 23647072). The variant has been previously reported as de novo in a similarly affected individual (PMID: 23647072). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000087143 SCV000120005 pathogenic Intellectual disability, X-linked 49 2013-07-01 no assertion criteria provided literature only

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