ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)

gnomAD frequency: 0.00001  dbSNP: rs794726972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672731 SCV000797866 likely pathogenic Glutaric aciduria, type 1 2018-02-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672731 SCV004199268 pathogenic Glutaric aciduria, type 1 2023-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672731 SCV004297916 pathogenic Glutaric aciduria, type 1 2023-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln333*) 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 premature translational stop signal has been observed in individual(s) with glutaric acidemia type I (PMID: 27397597). ClinVar contains an entry for this variant (Variation ID: 556692). For these reasons, this variant has been classified as Pathogenic.

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