ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2T>C (p.Met1Thr) (rs121964978)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012768 SCV001411442 pathogenic Non-ketotic hyperglycinemia 2019-10-23 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GLDC mRNA. The next in-frame methionine is located at codon 78. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to segregate with clinical features of glycine encephalopathy in families (PMID: 15864413). ClinVar contains an entry for this variant (Variation ID: 11988). This variant has been reported to affect GLDC mRNA levels (PMID: 15864413). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012768 SCV000033003 pathogenic Non-ketotic hyperglycinemia 2005-01-01 no assertion criteria provided literature only

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