ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.832G>A (p.Gly278Arg)

dbSNP: rs1243793048
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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 RCV001248619 SCV001422118 uncertain significance Neuronal ceroid lipofuscinosis 1 2022-08-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 278 of the PPT1 protein (p.Gly278Arg). This variant has not been reported in the literature in individuals affected with PPT1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PPT1 protein function. ClinVar contains an entry for this variant (Variation ID: 972558).

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