ClinVar Miner

Submissions for variant NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs)

dbSNP: rs786205882
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Total submissions: 2
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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

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