ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)

dbSNP: rs104894385
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000002674 SCV000793505 pathogenic Neuronal ceroid lipofuscinosis 5 2017-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000689128 SCV000816767 pathogenic Neuronal ceroid lipofuscinosis 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp75*) in the CLN5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN5 are known to be pathogenic (PMID: 20157158). This variant is present in population databases (rs104894385, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with late infantile neuronal ceroid lipofuscinosis, and a CLN5-related condition (PMID: 9662406; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2565). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000002674 SCV001977472 pathogenic Neuronal ceroid lipofuscinosis 5 2021-08-10 criteria provided, single submitter clinical testing
OMIM RCV000002674 SCV000022832 pathogenic Neuronal ceroid lipofuscinosis 5 1998-07-01 no assertion criteria provided literature only
GeneReviews RCV000002674 SCV000086948 not provided Neuronal ceroid lipofuscinosis 5 no assertion provided literature only
Natera, Inc. RCV000689128 SCV002087941 pathogenic Neuronal ceroid lipofuscinosis 2021-01-09 no assertion criteria provided clinical testing

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