Submissions for variant NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)

gnomAD frequency: 0.00001  dbSNP: rs555710402

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002538341	SCV003723298	likely pathogenic	Inborn genetic diseases	2021-03-26	criteria provided, single submitter	clinical testing	The c.19G>T (p.G7*) alteration, located in exon 1 (coding exon 1) of the MPDU1 gene, consists of a G to T substitution at nucleotide position 19. This changes the amino acid from a glycine (G) to a stop codon at amino acid position 7. The predicted stop codon occurs within the first 150 nucleotides of the MPDU1 gene. This alteration may escape nonsense-mediated mRNA decay and/or be rescued by re-initiation (Rivas, 2015; Lindeboom, 2016; Rhee, 2017). However, a significant portion of the protein is affected (Ambry internal data). Based on the available evidence, this alteration is classified as likely pathogenic.
GenomeConnect, ClinGen	RCV000845024	SCV000986858	not provided	MPDU1-congenital disorder of glycosylation		no assertion provided	phenotyping only	Variant interpretted as Likely pathogenic and reported on 07/25/2018 by GTR ID PerkinElmer Genetics, Inc.. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.