ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)

gnomAD frequency: 0.00004  dbSNP: rs200347945
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291054 SCV000452123 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 RCV000346085 SCV000452124 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) RCV000728584 SCV000856176 uncertain significance not provided 2017-08-04 criteria provided, single submitter clinical testing
Invitae RCV001086922 SCV001083278 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000728584 SCV001811415 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000346085 SCV002075410 likely benign Bifunctional peroxisomal enzyme deficiency 2020-01-30 no assertion criteria provided clinical testing

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