ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)

gnomAD frequency: 0.00002  dbSNP: rs780820166
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734721 SCV000862885 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV001312383 SCV001502835 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000734721 SCV001826351 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535390 SCV003676791 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.1278A>T (p.E426D) alteration is located in exon 15 (coding exon 15) of the HSD17B4 gene. This alteration results from a A to T substitution at nucleotide position 1278, causing the glutamic acid (E) at amino acid position 426 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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