ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.986+1G>A

gnomAD frequency: 0.00001  dbSNP: rs961071228
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250254 SCV002518889 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496183 SCV002786456 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003094035 SCV003295881 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-05-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 of the POMT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1686087). Disruption of this splice site has been observed in individual(s) with congenital muscular dystrophy (PMID: 27193224). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.
Baylor Genetics RCV002250254 SCV004204048 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2023-05-23 criteria provided, single submitter clinical testing

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