ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1184-1G>C

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472502 SCV004204085 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2024-03-07 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004577041 SCV005061221 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N criteria provided, single submitter clinical testing The invariant splice acceptor c.1184-1G>C has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant has been reported with allele frequency of 0.0008% in gnomAD Exomes and is absent in 1000 Genomes database. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In absence of another reportable variant in POMT2 gene, the molecular diagnosis is not confirmed.
Fulgent Genetics, Fulgent Genetics RCV005012969 SCV005635512 likely pathogenic 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 2024-06-25 criteria provided, single submitter clinical testing

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