ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys)

gnomAD frequency: 0.00004  dbSNP: rs774047299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003238736 SCV003936417 uncertain significance not provided 2024-06-28 criteria provided, single submitter clinical testing 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: 24767728)
OMIM RCV000201224 SCV000255943 pathogenic ALDH18A1-related de Barsy syndrome 2014-07-01 no assertion criteria provided literature only

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