ClinVar Miner

Submissions for variant NM_001243766.1(POMGNT1):c.1298C>T (p.Thr433Met) (rs146097254)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000242900 SCV000196858 likely benign not specified 2017-08-01 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000242900 SCV000226517 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242900 SCV000307099 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260800 SCV000357987 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 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.
Illumina Clinical Services Laboratory,Illumina RCV000318279 SCV000357988 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 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.
Athena Diagnostics Inc RCV000710194 SCV000614739 likely benign not provided 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV001084434 SCV000649955 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000679858 SCV000807208 likely benign Muscle eye brain disease 2017-12-31 criteria provided, single submitter clinical testing

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