ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.456T>C (p.Asn152=)

gnomAD frequency: 0.00070  dbSNP: rs141374913
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127721 SCV000171300 benign not specified 2013-02-18 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.
Invitae RCV000676834 SCV001014415 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164483 SCV001326615 uncertain significance Pontocerebellar hypoplasia type 6 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.
CeGaT Center for Human Genetics Tuebingen RCV000676834 SCV001745945 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing RARS2: BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000127721 SCV003845130 likely benign not specified 2023-02-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676834 SCV000802644 likely benign not provided 2017-11-08 no assertion criteria provided clinical testing
Natera, Inc. RCV001164483 SCV002079909 likely benign Pontocerebellar hypoplasia type 6 2019-12-18 no assertion criteria provided clinical testing

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