ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.91+5G>A

dbSNP: rs952356983
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802276 SCV000942100 pathogenic Glutaric aciduria, type 1 2023-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the c.91+5G nucleotide in the GCDH gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 7795610). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 647712). This variant has been observed in individual(s) with findings that are highly specific for glutaric aciduria type 1 and/or glutaric aciduria type 1 (PMID: 33064266; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change falls in intron 2 of the GCDH gene. It does not directly change the encoded amino acid sequence of the GCDH protein. It affects a nucleotide within the consensus splice site.
Mendelics RCV000802276 SCV001140994 pathogenic Glutaric aciduria, type 1 2019-05-28 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000802276 SCV003807808 uncertain significance Glutaric aciduria, type 1 2022-03-17 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3 supporting, PP4
Baylor Genetics RCV000802276 SCV004199252 likely pathogenic Glutaric aciduria, type 1 2024-03-16 criteria provided, single submitter clinical testing
GeneDx RCV004721614 SCV005327616 pathogenic not provided 2024-02-02 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 7795610, 37020324, 33064266)

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