Submissions for variant NM_000414.4(HSD17B4):c.2041A>G (p.Lys681Glu)

gnomAD frequency: 0.00006  dbSNP: rs139348491

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000730276	SCV000858002	uncertain significance	not provided	2017-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000730276	SCV002062614	uncertain significance	not provided	2021-11-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000730276	SCV002542132	uncertain significance	not provided	2021-05-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002535148	SCV003257637	likely benign	Bifunctional peroxisomal enzyme deficiency; Perrault syndrome	2024-05-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004985103	SCV005602016	uncertain significance	Inborn genetic diseases	2024-09-30	criteria provided, single submitter	clinical testing	The c.2041A>G (p.K681E) alteration is located in exon 23 (coding exon 23) of the HSD17B4 gene. This alteration results from a A to G substitution at nucleotide position 2041, causing the lysine (K) at amino acid position 681 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004735777	SCV005359160	uncertain significance	HSD17B4-related disorder	2024-08-08	no assertion criteria provided	clinical testing	The HSD17B4 c.2041A>G variant is predicted to result in the amino acid substitution p.Lys681Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.