ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)

dbSNP: rs386833968
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823474 SCV000964335 uncertain significance Neuronal ceroid lipofuscinosis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 379 of the CLN5 protein (p.Trp379Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with neuronal ceroid lipofucinosis (PMID: 19309691). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 56530). 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"). Experimental studies have shown that this missense change affects CLN5 function (PMID: 19309691). 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.
CeGaT Center for Human Genetics Tuebingen RCV001092076 SCV001248434 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000049943 SCV001977467 likely pathogenic Neuronal ceroid lipofuscinosis 5 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000049943 SCV004214378 likely pathogenic Neuronal ceroid lipofuscinosis 5 2023-08-25 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049943 SCV000082352 probable-pathogenic Neuronal ceroid lipofuscinosis 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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