ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter)

dbSNP: rs367543077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000034849 SCV003269055 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-03-04 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 41939). This premature translational stop signal has been observed in individual(s) with B3GALNT2-related conditions (PMID: 23453667). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln475*) in the B3GALNT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the B3GALNT2 protein.
GeneDx RCV000119383 SCV005079999 likely pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 26 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35456500, 35127920, 23453667)
OMIM RCV000034849 SCV000058419 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2013-03-07 no assertion criteria provided literature only
Leiden Muscular Dystrophy pages (B3GALNT2) RCV000119383 SCV000154290 not provided not provided no assertion provided not provided

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