ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg)

dbSNP: rs386833719
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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 RCV001040790 SCV001204380 uncertain significance Neuronal ceroid lipofuscinosis 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 134 of the CLN3 protein (p.Cys134Arg). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with juvenile neuronal ceroid lipofuscinoses (PMID:21990111). ClinVar contains an entry for this variant (Variation ID: 56268). 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: "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.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049680 SCV000082087 probable-pathogenic Neuronal ceroid lipofuscinosis 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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