Submissions for variant NM_000481.4(AMT):c.970_972del (p.Met324del)

dbSNP: rs386833691

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
3billion, Medical Genetics	RCV000049652	SCV002521612	uncertain significance	Glycine encephalopathy	2022-05-22	criteria provided, single submitter	clinical testing	The variant is not observed in the gnomAD v2.1.1 dataset. Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function. The variant has been reported to be associated with AMT related disorder (ClinVar ID: VCV000056240). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000049652	SCV003525250	uncertain significance	Glycine encephalopathy	2024-03-11	criteria provided, single submitter	clinical testing	This variant, c.970_972del, results in the deletion of 1 amino acid(s) of the AMT protein (p.Met324del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with glycine encephalopathy (PMID: 16450403). ClinVar contains an entry for this variant (Variation ID: 56240). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	RCV000049652	SCV000082059	probable-pathogenic	Glycine encephalopathy		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.