ClinVar Miner

Submissions for variant NC_000005.9:g.(?_131713846)_(131714183_?)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 RCV001380211 SCV001578177 pathogenic Renal carnitine transport defect 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the SLC22A5 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in SLC22A5 are known to be pathogenic (PMID: 9916797). A similar copy number variant has been observed in individual(s) with primary carnitine deficiency (PMID: 26190315). For these reasons, this variant has been classified as Pathogenic.

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