ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) (rs386833968)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823474 SCV000964335 uncertain significance Neuronal ceroid lipofuscinosis 2019-09-13 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 variant has been observed to segregate with neuronal ceroid lipofucinosis in a family (PMID: 19309691). ClinVar contains an entry for this variant (Variation ID: 56530). Experimental studies have shown that this missense change results in localization defects in vitro (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 Praxis fuer Humangenetik Tuebingen RCV001092076 SCV001248434 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000049943 SCV001977467 likely pathogenic Neuronal ceroid lipofuscinosis 5 2021-08-10 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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