ClinVar Miner

Submissions for variant NM_001256007.3(PNPLA8):c.373C>T (p.Arg125Cys)

gnomAD frequency: 0.00001  dbSNP: rs760704135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333891 SCV001526589 uncertain significance Mitochondrial myopathy-lactic acidosis-deafness syndrome 2018-04-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002546660 SCV003487265 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 125 of the PNPLA8 protein (p.Arg125Cys). This variant is present in population databases (rs760704135, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PNPLA8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031939). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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.

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