ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter)

dbSNP: rs1553406772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667860 SCV000792371 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-06-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667860 SCV001162956 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type criteria provided, single submitter clinical testing
Invitae RCV003698807 SCV004459623 pathogenic not provided 2023-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552573). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln538*) in the LRPPRC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRPPRC are known to be pathogenic (PMID: 26510951).

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