ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser)

gnomAD frequency: 0.00001  dbSNP: rs775573521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874668 SCV002129794 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-09-27 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt B3GALNT2 protein function. ClinVar contains an entry for this variant (Variation ID: 1369475). This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. This variant is present in population databases (rs775573521, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 232 of the B3GALNT2 protein (p.Gly232Ser).
Ambry Genetics RCV002551620 SCV003740493 uncertain significance Inborn genetic diseases 2024-03-05 criteria provided, single submitter clinical testing The c.694G>A (p.G232S) alteration is located in exon 6 (coding exon 6) of the B3GALNT2 gene. This alteration results from a G to A substitution at nucleotide position 694, causing the glycine (G) at amino acid position 232 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001874668 SCV003829717 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-06-19 criteria provided, single submitter clinical testing

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