ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.198del (p.Ile67fs)

gnomAD frequency: 0.00001  dbSNP: rs1057517088
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409879 SCV000486728 likely pathogenic Glutaric aciduria, type 1 2016-07-27 criteria provided, single submitter clinical testing
GeneDx RCV001572317 SCV001796933 pathogenic not provided 2019-09-27 criteria provided, single submitter clinical testing Frameshift 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000409879 SCV002233357 pathogenic Glutaric aciduria, type 1 2023-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile67Serfs*75) in the GCDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCDH are known to be pathogenic (PMID: 10699052, 11854167, 16602100). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GCDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 371205). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000409879 SCV004199236 likely pathogenic Glutaric aciduria, type 1 2023-07-17 criteria provided, single submitter clinical testing

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