Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001127453 | SCV001286767 | uncertain significance | Osteogenesis imperfecta type 6 | 2017-07-03 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Gene |
RCV001759890 | SCV001985294 | uncertain significance | not provided | 2019-04-25 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27056980, 30968248) |
| Labcorp Genetics |
RCV001759890 | SCV002271645 | likely benign | not provided | 2025-01-25 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001127453 | SCV005877634 | uncertain significance | Osteogenesis imperfecta type 6 | 2024-08-23 | criteria provided, single submitter | clinical testing | The SERPINF1 c.392C>A; p.Ala131Asp variant (rs148005190) is reported in the literature in individuals affected with otosclerosis as well as healthy controls (Valgaeren 2019, Ziff 2016), although it has not been reported in association with osteogenesis imperfecta, to our knowledge. This variant is found in the non-Finnish European population with an allele frequency of 0.09% (116/129,066 alleles, including one homozygote) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.335). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Valgaeren H et al. Insufficient evidence for a role of SERPINF1 in otosclerosis. Mol Genet Genomics. 2019 Aug;294(4):1001-1006. PMID: 30968248. Ziff JL et al. Mutations and altered expression of SERPINF1 in patients with familial otosclerosis. Hum Mol Genet. 2016 Jun 15;25(12):2393-2403. PMID: 27056980. |