ClinVar Miner

Submissions for variant NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)

gnomAD frequency: 0.00014  dbSNP: rs397515426
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000033059 SCV000247034 pathogenic Pontocerebellar hypoplasia type 8 2014-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000321930 SCV000330022 pathogenic not provided 2022-03-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23023333, 27535533)
New York Genome Center RCV000033059 SCV001761149 pathogenic Pontocerebellar hypoplasia type 8 2020-06-18 criteria provided, single submitter clinical testing
Invitae RCV000321930 SCV002236023 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln30*) in the CHMP1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHMP1A are known to be pathogenic (PMID: 23023333). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with pontocerebellar hypoplasia and microcephaly (PMID: 23023333). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39837). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000033059 SCV003832011 uncertain significance Pontocerebellar hypoplasia type 8 2021-06-16 criteria provided, single submitter clinical testing
OMIM RCV000033059 SCV000056839 pathogenic Pontocerebellar hypoplasia type 8 2012-11-01 no assertion criteria provided literature only

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