Submissions for variant NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)

dbSNP: rs1327361418

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Revvity Omics, Revvity	RCV003144096	SCV003834067	uncertain significance	not provided	2021-11-05	criteria provided, single submitter	clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV003237380	SCV003936014	pathogenic	Glycogen storage disease, type II	2023-06-24	criteria provided, single submitter	clinical testing	A heterozygous missense variant in exon 13 of the SMPD1 gene that results in the amino acid substitution of Arginine for Glycine at codon 621 was detected. The observed variant c.1861T>C (p.Trp621Arg) has not been reported in the 1000 genomes database and has a MAF of 0.0004% in the gnomAD databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2, MutationTaster2, SIFT and DANN. In summary, the variant meets our criteria to be classified as pathogenic.
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	RCV003237380	SCV004035130	likely pathogenic	Glycogen storage disease, type II	2023-09-17	criteria provided, single submitter	clinical testing	The novel heterozygous variant c.1861T>C (p.Trp621Arg) has been identified in a compound heterozygous state with c.1551+1G>T in a proband with cardiomegaly, respiratory distress, muscle weakness, hypotonia.