ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1213dup (p.Met405fs)

gnomAD frequency: 0.00001  dbSNP: rs1377352983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377591 SCV001574961 likely pathogenic Glutaric aciduria, type 1 2020-08-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Thr429 amino acid residue in GCDH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9600243, 10699052, 24973495). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with GCDH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the GCDH gene (p.Met405Asnfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 34 amino acids of the GCDH protein.
Baylor Genetics RCV001377591 SCV004199244 pathogenic Glutaric aciduria, type 1 2023-05-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001377591 SCV002086998 likely pathogenic Glutaric aciduria, type 1 2020-06-29 no assertion criteria provided clinical testing

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