ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.628G>C (p.Gly210Arg)

gnomAD frequency: 0.00002  dbSNP: rs200434104
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693064 SCV000820918 uncertain significance Neuronal ceroid lipofuscinosis 1 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 210 of the PPT1 protein (p.Gly210Arg). This variant is present in population databases (rs200434104, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PPT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 571825). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV000693064 SCV000894843 uncertain significance Neuronal ceroid lipofuscinosis 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV004817932 SCV005439321 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000693064 SCV002085982 uncertain significance Neuronal ceroid lipofuscinosis 1 2020-02-12 no assertion criteria provided clinical testing

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