ClinVar Miner

Submissions for variant NM_001478.5(B4GALNT1):c.1556G>C (p.Arg519Pro)

dbSNP: rs751593187
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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 RCV001051926 SCV001216111 uncertain significance Spastic paraplegia 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 519 of the B4GALNT1 protein (p.Arg519Pro). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with B4GALNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 848217). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
GeneDx RCV004773266 SCV005383260 pathogenic not provided 2024-04-26 criteria provided, single submitter clinical testing Published functional studies demonstrate that the R519P variant leads to a loss of function with no GM2 biosynthesis detected (PMID: 35775650); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35775650)

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