ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile)

gnomAD frequency: 0.00379  dbSNP: rs17636067
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363473 SCV000472711 benign Farber lipogranulomatosis 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000422429 SCV000510681 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000422429 SCV000840861 benign not provided 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV000422429 SCV001020704 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000422429 SCV001939701 benign not provided 2020-04-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29140481)
CeGaT Center for Human Genetics Tuebingen RCV000422429 SCV004164435 benign not provided 2022-05-01 criteria provided, single submitter clinical testing ASAH1: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004549825 SCV004739066 benign ASAH1-related disorders 2019-05-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000422429 SCV000801524 benign not provided 2015-12-15 no assertion criteria provided clinical testing

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