ClinVar Miner

Submissions for variant NM_000345.4(SNCA):c.408C>T (p.Tyr136=)

gnomAD frequency: 0.00252  dbSNP: rs76642636
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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 RCV000350378 SCV000451643 benign Parkinson Disease, Dominant 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.
Invitae RCV000638389 SCV000759897 benign Lewy body dementia; Autosomal dominant Parkinson disease 1 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001579798 SCV001937598 benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502351 SCV002795367 benign Lewy body dementia; Autosomal dominant Parkinson disease 1; Autosomal dominant Parkinson disease 4 2021-07-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579798 SCV004152974 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SNCA: BP4, BP7, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579798 SCV001808558 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579798 SCV001976037 likely benign not provided no assertion criteria provided clinical testing

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