ClinVar Miner

Submissions for variant NM_024411.5(PDYN):c.436A>C (p.Met146Leu)

gnomAD frequency: 0.00698  dbSNP: rs77155664
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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 RCV000624990 SCV000433066 benign Spinocerebellar ataxia type 23 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 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624990 SCV000743430 likely benign Spinocerebellar ataxia type 23 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624990 SCV000744674 likely benign Spinocerebellar ataxia type 23 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000891825 SCV001035663 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289117 SCV001476726 benign not specified 2020-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000891825 SCV002039083 likely benign not provided 2022-09-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000891825 SCV002563672 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PDYN: BP4, BS2

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