Submissions for variant NM_000345.4(SNCA):c.216G>A (p.Thr72=)

gnomAD frequency: 0.00021  dbSNP: rs144758871

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087680	SCV001018931	likely benign	Lewy body dementia; Autosomal dominant Parkinson disease 1	2023-07-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000876367	SCV001154207	uncertain significance	not provided	2017-04-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151997	SCV001313189	uncertain significance	Parkinson Disease, Dominant	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000876367	SCV001809135	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000876367	SCV001973573	likely benign	not provided		no assertion criteria provided	clinical testing