ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1433A>G (p.His478Arg)

gnomAD frequency: 0.00001  dbSNP: rs765346043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054670 SCV001219018 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 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 478 of the POMT2 protein (p.His478Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs765346043, ExAC 0.001%). This missense change has been observed in individual(s) with Walker-Warburg syndrome (PMID: 22958903, 28980384). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Baylor Genetics RCV003473654 SCV004204095 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2023-09-19 criteria provided, single submitter clinical testing

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