ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.290G>A (p.Arg97His)

gnomAD frequency: 0.00236  dbSNP: rs116605307
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000175909 SCV000167781 benign not specified 2014-02-05 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) RCV000175909 SCV000227483 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079899 SCV000560189 likely benign Neuronal ceroid lipofuscinosis 2025-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711264 SCV000841598 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316357 SCV000851171 benign Inborn genetic diseases 2016-08-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV000711264 SCV005220461 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004542937 SCV004772168 benign CLN8-related disorder 2020-12-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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