ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3900+1G>C

dbSNP: rs863225443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001853257 SCV002121279 pathogenic not provided 2022-02-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 35, but is expected to preserve the integrity of the reading-frame (PMID: 26510951). ClinVar contains an entry for this variant (Variation ID: 218165). Disruption of this splice site has been observed in individuals with Leigh syndrome (PMID: 26510951). This sequence change affects a donor splice site in intron 35 of the LRPPRC gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.
Baylor Genetics RCV000202399 SCV004191097 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2023-04-02 criteria provided, single submitter clinical testing
OMIM RCV000202399 SCV000257422 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2015-12-01 no assertion criteria provided literature only

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