ClinVar Miner

Submissions for variant NC_000007.13:g.(?_95906498)_(95926273_?)dup

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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 RCV003116721 SCV003792930 likely pathogenic Citrin deficiency 2022-03-09 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant is also known as r.16_212dup. A similar copy number variant has been observed in individual(s) with SLC25A13-related conditions (PMID: 23022256). This variant results in a copy number gain of the genomic region encompassing exon(s) 2-3 of the SLC25A13 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in SLC25A13 are known to be pathogenic (PMID: 10369257, 14680984, 27405544).

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