ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1485-3C>T

gnomAD frequency: 0.00006  dbSNP: rs754892193
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712832 SCV000706538 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712832 SCV000843367 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001368611 SCV001565010 uncertain significance 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 2022-04-09 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the POMT2 gene. It does not directly change the encoded amino acid sequence of the POMT2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs754892193, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 500535). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000712832 SCV003809783 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing

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