ClinVar Miner

Submissions for variant NM_018444.4(PDP1):c.1595C>T (p.Ala532Val)

gnomAD frequency: 0.00006  dbSNP: rs768767735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199743 SCV000252072 likely benign not specified 2013-05-05 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001853192 SCV002172342 uncertain significance not provided 2022-07-09 criteria provided, single submitter clinical testing 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"). 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. ClinVar contains an entry for this variant (Variation ID: 214971). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 532 of the PDP1 protein (p.Ala532Val). This variant is present in population databases (rs768767735, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PDP1-related conditions.

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