ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)

gnomAD frequency: 0.00004  dbSNP: rs528966598
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224530 SCV000280701 uncertain significance not provided 2015-08-19 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Illumina Laboratory Services, Illumina RCV000345705 SCV000438659 likely benign PLA2G6-associated neurodegeneration 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV000765650 SCV000896979 uncertain significance Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000224530 SCV001788441 likely benign not provided 2021-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057229 SCV002492445 benign Infantile neuroaxonal dystrophy 2021-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224530 SCV004147891 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing ENSG00000279080: BS2; PLA2G6: BS2

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