ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.823G>C (p.Glu275Gln)

gnomAD frequency: 0.00002  dbSNP: rs749774943
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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 RCV000538894 SCV000628997 uncertain significance Neuronal ceroid lipofuscinosis 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 275 of the CLN8 protein (p.Glu275Gln). This variant is present in population databases (rs749774943, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CLN8-related conditions. ClinVar contains an entry for this variant (Variation ID: 457981). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CLN8 protein function. 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. RCV001273357 SCV001456333 uncertain significance Neuronal ceroid lipofuscinosis 8 2020-09-16 no assertion criteria provided clinical testing

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