ClinVar Miner

Submissions for variant NM_003783.3(B3GALT2):c.779A>T (p.Glu260Val)

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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 RCV004213090 SCV003719480 uncertain significance not specified 2024-01-08 criteria provided, single submitter clinical testing The c.779A>T (p.E260V) alteration is located in exon 2 (coding exon 1) of the B3GALT2 gene. This alteration results from a A to T substitution at nucleotide position 779, causing the glutamic acid (E) at amino acid position 260 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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