ClinVar Miner

Submissions for variant NM_005460.4(SNCAIP):c.1861C>T (p.Arg621Cys)

gnomAD frequency: 0.00334  dbSNP: rs28937592
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314385 SCV000452189 likely benign Parkinson Disease, Dominant/Recessive 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000894183 SCV001038152 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894183 SCV004159266 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MGC32805: BS2; SNCAIP: BS2
OMIM RCV000006451 SCV000026634 uncertain significance Parkinson disease, late-onset 2008-03-21 no assertion criteria provided literature only

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