ClinVar Miner

Submissions for variant NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly)

gnomAD frequency: 0.00001  dbSNP: rs886037751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001778788 SCV002015408 uncertain significance not provided 2021-10-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 26531781)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001812206 SCV004805719 uncertain significance Heterotaxy, visceral, 6, autosomal 2024-03-29 criteria provided, single submitter clinical testing
Department of Medical Biology, Academic Medical Center RCV000240665 SCV000246002 likely pathogenic Dextrocardia 2015-09-01 no assertion criteria provided research
OMIM RCV001812206 SCV002060403 pathogenic Heterotaxy, visceral, 6, autosomal 2022-01-14 no assertion criteria provided literature only

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