ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) (rs148487944)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118818 SCV000153465 uncertain significance not specified 2018-06-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298244 SCV000479351 uncertain significance Congenital cerebellar hypoplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000767000 SCV000565657 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing The K548R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K548R variant is observed in 130/126674 (0.1%) alleles from individuals of European background (Lek et al., 2016). The K548R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000767000 SCV001155597 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001168020 SCV001330573 uncertain significance Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 2018-01-12 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.

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