ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.777T>C (p.Asn259=)

gnomAD frequency: 0.00334  dbSNP: rs34814682
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124346 SCV000167776 benign not specified 2013-01-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081685 SCV000753935 benign Neuronal ceroid lipofuscinosis 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316356 SCV000851100 benign Inborn genetic diseases 2016-06-27 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.
Athena Diagnostics RCV000632749 SCV001143619 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483244 SCV002796801 likely benign Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 2021-10-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000632749 SCV001929674 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000124346 SCV001976179 benign not specified no assertion criteria provided clinical testing

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