ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)

gnomAD frequency: 0.00041  dbSNP: rs1131691530
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493202 SCV000582314 uncertain significance not provided 2024-07-26 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has been reported in an individual with TAA (PMID: 35830949); This variant is associated with the following publications: (PMID: 35830949)
Fulgent Genetics, Fulgent Genetics RCV002475976 SCV000894600 uncertain significance Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 2021-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034688 SCV000933996 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 6 of the B3GALT6 protein (p.Arg6Gln). This variant is present in population databases (no rsID available, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with B3GALT6-related conditions. ClinVar contains an entry for this variant (Variation ID: 429685). 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: "Not Available"; 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.
CeGaT Center for Human Genetics Tuebingen RCV000493202 SCV001500782 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527086 SCV003735187 uncertain significance Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing The c.17G>A (p.R6Q) alteration is located in exon 1 (coding exon 1) of the B3GALT6 gene. This alteration results from a G to A substitution at nucleotide position 17, causing the arginine (R) at amino acid position 6 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000493202 SCV003829725 uncertain significance not provided 2021-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000493202 SCV004227711 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing BP4, PM5

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