Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556215 | SCV004295526 | pathogenic | not provided | 2023-09-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn212Hisfs*29) in the PNPLA8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PNPLA8 are known to be pathogenic (PMID: 29681094). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of mitochondrial myopathy with lactic acidosis (PMID: 25512002). This variant is also known as c.334_337delAATT (p.Asn112HisfsX29). ClinVar contains an entry for this variant (Variation ID: 190127). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000170361 | SCV000222770 | pathogenic | Mitochondrial myopathy-lactic acidosis-deafness syndrome | 2015-03-01 | no assertion criteria provided | literature only |