ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2518C>T (p.Arg840Cys)

dbSNP: rs1599303242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996726 SCV001151608 uncertain significance not provided 2024-11-01 criteria provided, single submitter clinical testing PNPLA6: PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV001316241 SCV001506848 uncertain significance Hereditary spastic paraplegia 39 2022-03-10 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 802 of the PNPLA6 protein (p.Arg802Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PNPLA6-related conditions. ClinVar contains an entry for this variant (Variation ID: 808432). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV003160136 SCV003894224 uncertain significance Inborn genetic diseases 2023-01-17 criteria provided, single submitter clinical testing The c.2404C>T (p.R802C) alteration is located in exon 24 (coding exon 22) of the PNPLA6 gene. This alteration results from a C to T substitution at nucleotide position 2404, causing the arginine (R) at amino acid position 802 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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