ClinVar Miner

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

gnomAD frequency: 0.00021  dbSNP: rs150326995
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
Illumina Laboratory Services, Illumina RCV000344886 SCV000452121 uncertain significance Perrault syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000380697 SCV000452122 uncertain significance Bifunctional peroxisomal enzyme deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga) 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
Invitae RCV001083539 SCV001026555 benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000731627 SCV001891075 benign not provided 2020-07-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000731627 SCV003811251 uncertain significance not provided 2019-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731627 SCV004159256 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing HSD17B4: BS2
PreventionGenetics, part of Exact Sciences RCV003929905 SCV004743191 likely benign HSD17B4-related condition 2022-05-28 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. RCV000380697 SCV001457294 likely benign Bifunctional peroxisomal enzyme deficiency 2020-01-04 no assertion criteria provided clinical testing

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