ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)

gnomAD frequency: 0.00001  dbSNP: rs1593911055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819484 SCV000960148 uncertain significance Neuronal ceroid lipofuscinosis 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 193 of the CLN5 protein (p.Cys193Arg). The cysteine residue is highly 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 not been reported in the literature in individuals affected with CLN5-related conditions. 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 disruptive. 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.
Natera, Inc. RCV001272145 SCV001453815 uncertain significance Neuronal ceroid lipofuscinosis 5 2020-09-16 no assertion criteria provided clinical testing

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