ClinVar Miner

Submissions for variant NM_003783.3(B3GALT2):c.194G>A (p.Arg65Gln)

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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 RCV004116862 SCV003601294 uncertain significance not specified 2024-11-09 criteria provided, single submitter clinical testing The c.194G>A (p.R65Q) alteration is located in exon 2 (coding exon 1) of the B3GALT2 gene. This alteration results from a G to A substitution at nucleotide position 194, causing the arginine (R) at amino acid position 65 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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