ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2405C>T (p.Pro802Leu)

gnomAD frequency: 0.00002  dbSNP: rs1009954378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342611 SCV001536555 uncertain significance Hereditary spastic paraplegia 39 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 764 of the PNPLA6 protein (p.Pro764Leu). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1039185). This variant has not been reported in the literature in individuals affected with PNPLA6-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002546962 SCV003747319 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.2291C>T (p.P764L) alteration is located in exon 23 (coding exon 21) of the PNPLA6 gene. This alteration results from a C to T substitution at nucleotide position 2291, causing the proline (P) at amino acid position 764 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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