ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)

gnomAD frequency: 0.00280  dbSNP: rs146097254
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710194 SCV000196858 benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242900 SCV000226517 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242900 SCV000307099 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 Laboratory Services, Illumina RCV000318279 SCV000357988 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O 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 RCV000242900 SCV000614739 benign not specified 2023-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084434 SCV000649955 benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2025-02-03 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
Breakthrough Genomics, Breakthrough Genomics RCV000710194 SCV005260362 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000679858 SCV001464160 benign Muscle eye brain disease 2019-11-22 no assertion criteria provided clinical testing

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