ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)

gnomAD frequency: 0.00011  dbSNP: rs771922933
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727131 SCV000706032 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000727131 SCV000727694 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727131 SCV000885569 likely benign not provided 2018-05-26 criteria provided, single submitter clinical testing The p.Val464Val variant (rs771922933) does not alter the amino acid sequence of the HSD17B4 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with hearing loss in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.006 percent (identified on 14 out of 245,598 chromosomes) and has been reported to the ClinVar database (Variation ID: 500197). Based on these observations, the p.Val464Val variant is likely to be benign.
Invitae RCV001087607 SCV001045411 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530700 SCV004710741 likely benign HSD17B4-related disorder 2023-02-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001829660 SCV002075413 likely benign Bifunctional peroxisomal enzyme deficiency 2020-10-07 no assertion criteria provided clinical testing

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