ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)

gnomAD frequency: 0.00034  dbSNP: rs138330966
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000386165 SCV000335329 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395975 SCV000358001 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000298962 SCV000358002 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079550 SCV001015876 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000386165 SCV001145192 benign not provided 2019-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000386165 SCV001772947 likely benign not provided 2018-08-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833327 SCV002089631 likely benign Muscle eye brain disease 2020-04-03 no assertion criteria provided clinical testing

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