ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.512C>G (p.Pro171Arg)

dbSNP: rs1184115888
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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 RCV001891981 SCV002138216 uncertain significance Neuronal ceroid lipofuscinosis 2021-11-11 criteria provided, single submitter clinical testing 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. 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 expected to disrupt CLN8 protein function. This variant has not been reported in the literature in individuals affected with CLN8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 171 of the CLN8 protein (p.Pro171Arg).
3billion, Medical Genetics RCV002283565 SCV002572650 uncertain significance Neuronal ceroid lipofuscinosis 8 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.89; 3Cnet: 0.99). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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