ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1881G>A (p.Ala627=)

gnomAD frequency: 0.00158  dbSNP: rs146588608
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175331 SCV000226802 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327579 SCV000388974 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2N 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.
Athena Diagnostics RCV000175331 SCV000614758 benign not specified 2017-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648187 SCV000770001 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531816 SCV001747108 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing POMT2: BP4, BP7
GeneDx RCV001531816 SCV001895145 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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