ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer)

dbSNP: rs1135401730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008032 SCV001167765 likely pathogenic not provided 2019-03-21 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NGLY1 gene. The L637X variant has been previously reported in a patient with a clinical diagnosis of NGLY1-CDDG who had a second variant on the opposite allele (Lam et al., 2017; Kong et al., 2017). The L637X variant is not observed in large population cohorts (Lek et al., 2016). L637X is predicted to cause loss of normal protein function through protein truncation as the last 18 amino acids are lost. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Medical Biochemical Genetics, National Human Genome institute, NIH, National Institutes of Health RCV000496180 SCV000259185 pathogenic Congenital disorder of deglycosylation 2016-01-07 no assertion criteria provided clinical testing

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