ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del)

gnomAD frequency: 0.00001  dbSNP: rs763262424
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044888 SCV001208709 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2021-08-24 criteria provided, single submitter clinical testing This variant, c.1556_1564del, results in the deletion of 3 amino acid(s) of the POMT1 protein (p.Gln519_Gln521del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with POMT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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