ClinVar Miner

Submissions for variant NM_002662.5(PLD1):c.2084G>A (p.Arg695His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003225393 SCV003921313 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing Reported as a heterozygous, de novo variant in a patient with tetralogy of Fallot; this patient harbored multiple other de novo and compound heterozygous variants identified by trio exome sequencing (Tang et al., 2022); 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: 34905512)

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