ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.1486G>A (p.Asp496Asn)

dbSNP: rs1296975018
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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 RCV001910035 SCV002182614 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1408587). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 496 of the LONP1 protein (p.Asp496Asn). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with LONP1-related conditions. 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 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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