ClinVar Miner

Submissions for variant NM_003783.3(B3GALT2):c.377A>G (p.Lys126Arg)

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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 RCV004599735 SCV005097771 uncertain significance not specified 2024-05-24 criteria provided, single submitter clinical testing The c.377A>G (p.K126R) alteration is located in exon 2 (coding exon 1) of the B3GALT2 gene. This alteration results from a A to G substitution at nucleotide position 377, causing the lysine (K) at amino acid position 126 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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