ClinVar Miner

Submissions for variant NC_000009.12:g.(?_6550783)_(6620339_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638301 SCV000759795 pathogenic Glycine encephalopathy 2022-10-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-21 of the GLDC gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with glycine encephalopathy (PMID: 26179960). The region of the GLDC gene that includes exon(s) 3-9 has been determined to be clinically significant (PMID: 17361008, 27362913). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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