ClinVar Miner

Submissions for variant NM_003783.3(B3GALT2):c.339G>T (p.Glu113Asp)

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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 RCV004167956 SCV003662125 uncertain significance not specified 2022-11-18 criteria provided, single submitter clinical testing The c.339G>T (p.E113D) alteration is located in exon 2 (coding exon 1) of the B3GALT2 gene. This alteration results from a G to T substitution at nucleotide position 339, causing the glutamic acid (E) at amino acid position 113 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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