Submissions for variant NM_018706.7(DHTKD1):c.467dup (p.Thr157fs)

dbSNP: rs1554791360

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000484048	SCV000574408	likely pathogenic	not provided	2017-03-30	criteria provided, single submitter	clinical testing	The c.467dupA variant in the DHTKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.467dupA variant causes a frameshift starting with codon Threonine 157, changes this amino acid to a Aspartic acid residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Thr157AspfsX21. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.467dupA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.467dupA variant is a strong candidate for a pathogenic variant.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000714728	SCV000845455	pathogenic	2-aminoadipic 2-oxoadipic aciduria	2018-08-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000484048	SCV004701023	pathogenic	not provided	2024-02-01	criteria provided, single submitter	clinical testing	DHTKD1: PVS1, PM2