ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile)

gnomAD frequency: 0.00006  dbSNP: rs779469431
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798437 SCV000938054 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. This variant is present in population databases (rs779469431, gnomAD 0.01%). This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 264 of the B3GALNT2 protein (p.Phe264Ile). ClinVar contains an entry for this variant (Variation ID: 644502). 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. 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 tolerated.

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