ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)

dbSNP: rs568496266
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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 RCV000281232 SCV000373018 likely benign Glycogen storage disease, type V 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000483076 SCV000568096 likely benign not provided 2019-04-05 criteria provided, single submitter clinical testing
Invitae RCV000281232 SCV001086834 likely benign Glycogen storage disease, type V 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920259 SCV004730047 likely benign PYGM-related condition 2023-10-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000281232 SCV001452657 benign Glycogen storage disease, type V 2020-05-20 no assertion criteria provided clinical testing

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