ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.522C>T (p.Cys174=)

gnomAD frequency: 0.00008  dbSNP: rs148417620
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187122 SCV000240698 benign not specified 2014-09-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000729236 SCV000856879 uncertain significance not provided 2017-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079239 SCV001005647 likely benign Neuronal ceroid lipofuscinosis 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336494 SCV002645312 likely benign Inborn genetic diseases 2017-06-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004539736 SCV004793078 likely benign CLN8-related disorder 2024-06-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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