ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.1026A>G (p.Thr342=)

gnomAD frequency: 0.00011  dbSNP: rs200637649
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867013 SCV001008196 benign Neuronal ceroid lipofuscinosis 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001114863 SCV001272777 uncertain significance Neuronal ceroid lipofuscinosis 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001114863 SCV001977468 likely benign Neuronal ceroid lipofuscinosis 5 2021-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332798 SCV002632257 likely benign Inborn genetic diseases 2017-08-28 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.
Natera, Inc. RCV001114863 SCV001460326 benign Neuronal ceroid lipofuscinosis 5 2020-04-16 no assertion criteria provided clinical testing

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