ClinVar Miner

Submissions for variant NC_000005.9:g.(?_131705516)_(131729964_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003113200 SCV003791283 pathogenic Renal carnitine transport defect 2022-09-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SLC22A5 gene has been identified. Loss-of-function variants in SLC22A5 are known to be pathogenic (PMID: 9916797). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with primary carnitine deficiency (PMID: 20574985). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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