ClinVar Miner

Submissions for variant NM_003783.3(B3GALT2):c.1250G>C (p.Arg417Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004145733 SCV003617144 uncertain significance not specified 2022-05-11 criteria provided, single submitter clinical testing The c.1250G>C (p.R417P) alteration is located in exon 2 (coding exon 1) of the B3GALT2 gene. This alteration results from a G to C substitution at nucleotide position 1250, causing the arginine (R) at amino acid position 417 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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