ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3032C>T (p.Ala1011Val)

gnomAD frequency: 0.00001  dbSNP: rs776289656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343843 SCV001537859 uncertain significance Hereditary spastic paraplegia 39 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 973 of the PNPLA6 protein (p.Ala973Val). This variant is present in population databases (rs776289656, gnomAD 0.003%). 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: 1040238). 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: "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.

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