ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) (rs150326995)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731627 SCV000859471 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765793 SCV000897182 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344886 SCV000452121 uncertain significance Perrault syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380697 SCV000452122 uncertain significance Bifunctional peroxisomal enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222427 SCV000271840 uncertain significance not specified 2015-11-03 criteria provided, single submitter clinical testing The p.Thr342Met variant in HSD17B4 has not been previously reported in individua ls with hearing loss, Perrault syndrome or bi-functional protein deficiency. It has been identified in 0.21% (35/16512) of South Asian chromosomes (with lower f requencies in African, European and Latino chromosomes) by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP ID=rs150326995). Althou gh this variant has been seen in the general population, its frequency is not hi gh enough to rule out a pathogenic role. Computational prediction tools and cons ervation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Thr342Met variant is unc ertain.

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