ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.166C>T (p.Leu56Phe)

gnomAD frequency: 0.00044  dbSNP: rs374342418
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002200445 SCV002351652 likely benign Glycine encephalopathy 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV002260716 SCV002540396 uncertain significance not provided 2024-05-19 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004045593 SCV004876277 uncertain significance Inborn genetic diseases 2023-03-08 criteria provided, single submitter clinical testing The c.166C>T (p.L56F) alteration is located in exon 1 (coding exon 1) of the GLDC gene. This alteration results from a C to T substitution at nucleotide position 166, causing the leucine (L) at amino acid position 56 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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