ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr) (rs1553342979)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651074 SCV000772924 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-07-12 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 359 of the B3GALNT2 protein (p.Cys359Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another B3GALNT2 variant in individuals affected with clinical features of muscular dystrophy-dystroglycanopathy (PMID: 25326635, Invitae). ClinVar contains an entry for this variant (Variation ID: 540916). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV000651074 SCV000807368 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it in trans with an intronic mutation in a 2-year-old male with global delays, suspected Walker-Warburg muscular dystrophy, hypotonia, contractures, lissencephaly, hypdrocephalus, epliepsy, optic nerve hypoplasia, dysplastic retina, cataract, high myopia, undescended testicles, suspected panhypopituitarism.

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