ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2665+1G>C (rs149070244)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000353440 SCV000329725 pathogenic not provided 2020-09-23 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 7362913, 25525159, 16450403, 26749113, 27362913, 26179960, 31589614)
Counsyl RCV000411816 SCV000486117 likely pathogenic Non-ketotic hyperglycinemia 2016-11-11 criteria provided, single submitter clinical testing
Invitae RCV000411816 SCV000636393 pathogenic Non-ketotic hyperglycinemia 2020-09-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 22 of the GLDC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880, 16450403). This particular variant has been reported in the literature in individuals affected with nonketotic hyperglycinemia (PMID: 16450403). This variant was also found in individuals with suspected nonketotic hyperglycinemia where it has been observed on the opposite chromosome (in trans) from other pathogenic variants (PMID: 27362913). For these reasons, this variant has been classified as Pathogenic.

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