ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1275A>G (p.Glu425=)

gnomAD frequency: 0.02004  dbSNP: rs62620174
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118030 SCV000152351 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000118030 SCV000311730 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298065 SCV000477662 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 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.
GeneDx RCV000118030 SCV000518870 benign not specified 2015-11-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000533631 SCV000649872 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576824 SCV000677415 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2017-05-08 criteria provided, single submitter clinical testing

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