ClinVar Miner

Submissions for variant NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)

gnomAD frequency: 0.04659  dbSNP: rs9406386
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357343 SCV000419687 benign Dystonic disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361598 SCV000483889 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454425 SCV000540119 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 354/2178=16.25%
Mendelics RCV000986934 SCV001136093 benign Dystonia 16 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000986934 SCV001290335 benign Dystonia 16 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000986934 SCV001717930 benign Dystonia 16 2020-07-09 criteria provided, single submitter clinical testing
GeneDx RCV001691951 SCV001910379 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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