Submissions for variant NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)

gnomAD frequency: 0.00036  dbSNP: rs145728297

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000401079	SCV000341412	uncertain significance	not provided	2017-10-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000401079	SCV001790950	likely benign	not provided	2020-12-02	criteria provided, single submitter	clinical testing
New York Genome Center	RCV002227469	SCV002506787	uncertain significance	Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1	2021-05-14	criteria provided, single submitter	clinical testing
Invitae	RCV002518987	SCV003261386	likely benign	Bifunctional peroxisomal enzyme deficiency; Perrault syndrome	2024-01-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543107	SCV004780461	uncertain significance	HSD17B4-related disorder	2024-01-12	criteria provided, single submitter	clinical testing	The HSD17B4 c.2176C>G variant is predicted to result in the amino acid substitution p.Leu726Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% 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.