ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.329_332del (p.Ile110fs) (rs1555749434)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586688 SCV000695718 likely pathogenic Glutaric aciduria, type 1 2016-12-13 criteria provided, single submitter clinical testing Variant summary: The GCDH c.329_332delTCAA (p.Ile110Lysfs) variant results in a premature termination codon, predicted to cause a truncated or absent GCDH protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Mutation taster predicts a damaging outcome for this substitution. This variant is absent in 121344 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Invitae RCV000586688 SCV001375485 pathogenic Glutaric aciduria, type 1 2019-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile110Lysfs*31) in the GCDH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GCDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 495686). Loss-of-function variants in GCDH are known to be pathogenic (PMID: 10699052, 11854167, 16602100). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000586688 SCV001132204 likely pathogenic Glutaric aciduria, type 1 2017-11-30 no assertion criteria provided clinical testing

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