ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1333-14G>A

dbSNP: rs918556979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851613 SCV002257653 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 2023-12-07 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the POMT2 gene. It does not directly change the encoded amino acid sequence of the POMT2 protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 4 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with clinical features of POMT2-related conditions (PMID: 19138766; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3235). Studies have shown that this variant results in the activation of a cryptic splice site in intron 12 (PMID: 19138766). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000003391 SCV004204127 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2022-04-19 criteria provided, single submitter clinical testing
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan RCV003480018 SCV004222605 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 2024-11-28 criteria provided, single submitter clinical testing This variant was detected in a homozygous state in the present case and in an affected sibling. Both parents are asymptomatic carriers. RNA analysis of this variant has shown that it creates a cryptic splicing acceptor site, leading to the insertion of 12 base pairs at the beginning of exon 13 (PMID: 19138766). This alteration is expected to result in the insertion of 4 amino acids (p.Ile444_Asn445insLeuLeuTrpGln) at the protein level; it is expected to preserve the reading frame integrity (PMID: 19138766). The variant has been observed in one Portuguese patient and two Argentinean siblings with congenital muscular dystrophy (PMID: 19138766). Consequently, it has been classified as Pathogenic. This variant has been identified in a homozygous state in a new case of MDDGB2 (both parents are asymptomatic carriers). Family history includes a sister diagnosed with CMD, with a muscle biopsy showing alpha-dystroglycan deficiency.
OMIM RCV000003391 SCV000023549 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2009-07-01 no assertion criteria provided literature only

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