ClinVar Miner

Submissions for variant NM_002662.5(PLD1):c.2531A>G (p.His844Arg)

gnomAD frequency: 0.00007  dbSNP: rs556433569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190783 SCV000244224 likely pathogenic Inborn genetic diseases 2014-01-31 criteria provided, single submitter clinical testing
Invitae RCV002517031 SCV003281997 uncertain significance not provided 2022-08-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 208762). This missense change has been observed in individual(s) with neurodevelopmental disorder (PMID: 27513193). This variant is present in population databases (rs556433569, gnomAD 0.009%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 844 of the PLD1 protein (p.His844Arg).

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