ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.1173T>C (p.Asp391=)

gnomAD frequency: 0.01177  dbSNP: rs45499398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087360 SCV000763379 benign Autosomal recessive early-onset Parkinson disease 6 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712564 SCV000843080 benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001087360 SCV001256612 likely benign Autosomal recessive early-onset Parkinson disease 6 2017-04-28 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.
GeneDx RCV000712564 SCV001792307 likely benign not provided 2020-05-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001087360 SCV002797784 benign Autosomal recessive early-onset Parkinson disease 6 2021-08-05 criteria provided, single submitter clinical testing

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