ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.771G>A (p.Glu257=)

gnomAD frequency: 0.00402  dbSNP: rs73533466
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124326 SCV000167755 benign not specified 2013-01-31 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 RCV000553688 SCV000628938 benign Neuronal ceroid lipofuscinosis 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316353 SCV000849687 benign Inborn genetic diseases 2017-03-07 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.
CeGaT Center for Human Genetics Tuebingen RCV001579754 SCV004698622 benign not provided 2024-02-01 criteria provided, single submitter clinical testing CLN3: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001579754 SCV005296042 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579754 SCV001808396 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000124326 SCV001922070 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579754 SCV001974684 likely benign not provided no assertion criteria provided clinical testing

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