ClinVar Miner

Submissions for variant NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly)

gnomAD frequency: 0.00271  dbSNP: rs61752191
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000329856 SCV000426725 benign Fleck corneal dystrophy 2018-01-13 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 RCV002521377 SCV003252085 benign not provided 2023-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002521377 SCV005240910 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV002521377 SCV005330109 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PIKFYVE: BS2
PreventionGenetics, part of Exact Sciences RCV003940346 SCV004751758 benign PIKFYVE-related disorder 2019-06-07 no assertion criteria provided 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).

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