ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.-8A>C

gnomAD frequency: 0.00245  dbSNP: rs28381459
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000193180 SCV000171303 benign not specified 2014-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000193180 SCV000248675 likely benign not specified 2015-06-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397282 SCV000465756 likely benign Pontocerebellar hypoplasia type 6 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.
PreventionGenetics, part of Exact Sciences RCV003965065 SCV004783977 likely benign RARS2-related condition 2020-01-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000397282 SCV001459661 benign Pontocerebellar hypoplasia type 6 2020-09-16 no assertion criteria provided clinical testing

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