ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1582+7A>G

gnomAD frequency: 0.00001  dbSNP: rs863225446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000202398 SCV000799312 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2018-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556252 SCV004292456 likely pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the LRPPRC gene. It does not directly change the encoded amino acid sequence of the LRPPRC protein. 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. Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (PMID: 26510951). ClinVar contains an entry for this variant (Variation ID: 218168). This variant has been observed in individual(s) with LRPPRC-related conditions (PMID: 26510951). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000202398 SCV000257425 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2015-12-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000202398 SCV002075259 not provided Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-18-2020 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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