ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) (rs140526335)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498823 SCV000589445 uncertain significance not specified 2017-06-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the VLDLR gene. The N81S variant has been reported previously in a study of macular degeneration; however additional information was not provided (Seddon et al., 2013). The N81S variant is observed in 118/16,512 (0.7%) alleles from individuals of South Asian background, including two homozygous individuals (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N81S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. However, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory, University of Chicago RCV000498823 SCV000597850 likely benign not specified 2017-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000498823 SCV000708998 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Invitae RCV000971143 SCV001118765 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000971143 SCV001155595 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001167941 SCV001330492 likely benign Cerebellar ataxia, mental retardation, and dysequilibrium 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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