ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp)

dbSNP: rs1555751995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672866 SCV000798014 likely pathogenic Glutaric aciduria, type 1 2018-02-20 criteria provided, single submitter clinical testing
Invitae RCV000672866 SCV002283195 likely pathogenic Glutaric aciduria, type 1 2020-12-08 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 has been observed in individual(s) with glutaric acidemia type I (PMID: 11073722, 21031586). ClinVar contains an entry for this variant (Variation ID: 556812). This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the GCDH mRNA. It is expected to extend the length of the GCDH protein by 27 additional amino acid residues.

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