Submissions for variant NM_001012339.3(DNAJC21):c.50A>G (p.Glu17Gly)

gnomAD frequency: 0.00002  dbSNP: rs761693334

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000982425	SCV001130440	likely benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151259	SCV003839434	uncertain significance	not specified	2022-06-24	no assertion criteria provided	clinical testing	DNA sequence analysis of the DNAJC21 gene demonstrated a sequence change, c.50A>G, in exon 1 that results in an amino acid change, p.Glu17Gly. This sequence change does not appear to have been previously described in individuals with DNAJC21-related disorders. This sequence change has been described in the gnomAD database with a frequency of of 0.26% in the East Asian subpopulation and an overall frequency of 0.018% (dbSNP rs761693334). The p.Glu17Gly change affects a moderately conserved amino acid residue located in a domain of the DNAJC21 protein that is known to be functional. The p.Glu17Gly substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Glu17Gly change remains unknown at this time.