ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) (rs148313915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001048 SCV001158169 uncertain significance Imerslund-Gräsbeck syndrome 2019-02-15 criteria provided, single submitter clinical testing The CUBN c.1719A>T; p.Leu573Phe variant (rs148313915), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Ashkenazi Jewish population with an overall allele frequency of 0.13% (13/10072 alleles) in the Genome Aggregation Database. The leucine at codon 573 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Leu573Phe variant is uncertain at this time.
Illumina Clinical Services Laboratory,Illumina RCV001105435 SCV001262399 uncertain significance Imerslund-Gräsbeck 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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