ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)

gnomAD frequency: 0.00001  dbSNP: rs148862100
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493479 SCV000581862 likely pathogenic not provided 2020-01-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 19383612, 21990111, 20157158, 30919163)
Invitae RCV001318349 SCV001509047 uncertain significance Neuronal ceroid lipofuscinosis 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 374 of the CLN5 protein (p.Tyr374Cys). This variant is present in population databases (rs148862100, gnomAD 0.002%). This missense change has been observed in individuals with neuronal ceroid lipofuscinosis (PMID: 19383612, 20157158). ClinVar contains an entry for this variant (Variation ID: 2570). 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.
Genome-Nilou Lab RCV000002679 SCV001977466 likely pathogenic Neuronal ceroid lipofuscinosis 5 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000002679 SCV004214372 likely pathogenic Neuronal ceroid lipofuscinosis 5 2023-10-02 criteria provided, single submitter clinical testing
OMIM RCV000002679 SCV000022837 pathogenic Neuronal ceroid lipofuscinosis 5 2010-02-16 no assertion criteria provided literature only
Counsyl RCV000002679 SCV000800566 uncertain significance Neuronal ceroid lipofuscinosis 5 2019-06-06 no assertion criteria provided clinical testing

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