ClinVar Miner

Submissions for variant NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)

gnomAD frequency: 0.01709  dbSNP: rs72470544
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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 RCV000004590 SCV000432104 benign Parkinson disease 13, autosomal dominant, susceptibility to 2018-03-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516571 SCV001724868 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001516571 SCV001950831 benign not provided 2018-07-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15961413, 29372317)
Fulgent Genetics, Fulgent Genetics RCV002496256 SCV002804690 benign Parkinson disease 13, autosomal dominant, susceptibility to; 3-methylglutaconic aciduria type 8 2021-10-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516571 SCV005243032 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002496256 SCV006054393 benign Parkinson disease 13, autosomal dominant, susceptibility to; 3-methylglutaconic aciduria type 8 2022-11-18 criteria provided, single submitter research
OMIM RCV000004590 SCV000024764 uncertain significance Parkinson disease 13, autosomal dominant, susceptibility to 2008-07-01 no assertion criteria provided literature only

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