ClinVar Miner

Submissions for variant NM_003783.3(B3GALT2):c.403C>T (p.His135Tyr)

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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 RCV004287762 SCV003937397 uncertain significance not specified 2023-04-04 criteria provided, single submitter clinical testing The c.403C>T (p.H135Y) alteration is located in exon 2 (coding exon 1) of the B3GALT2 gene. This alteration results from a C to T substitution at nucleotide position 403, causing the histidine (H) at amino acid position 135 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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