ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.788G>A (p.Ser263Asn)

dbSNP: rs730882146
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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 RCV002515118 SCV003442184 uncertain significance Neuronal ceroid lipofuscinosis 2022-04-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 312 of the CLN5 protein (p.Ser312Asn). This variant is present in population databases (rs730882146, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 183049). 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. Experimental studies have shown that this missense change affects CLN5 function (PMID: 25359263). 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.
OMIM RCV000161918 SCV000211948 pathogenic Neuronal ceroid lipofuscinosis 5 2015-01-01 no assertion criteria provided literature only

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