ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) (rs766199971)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763126 SCV000893678 likely pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590157 SCV000696690 pathogenic Bifunctional peroxisomal enzyme deficiency 2017-02-16 criteria provided, single submitter clinical testing Variant summary: The HSD17B4 c.1516C>T (p.Arg506Cys) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 2/120420 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic HSD17B4 variant (0.002958). The variant has been reported in affected individuals in the literature both in the homozygous and compound heterozygous state. Additionally, functional studies have shown the variant to abolish hydratase activity (Tsuchida_2015). Taken together, this variant is classified as pathogenic.

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