ClinVar Miner

Submissions for variant NM_003783.3(B3GALT2):c.598T>C (p.Tyr200His)

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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 RCV004303647 SCV003959021 uncertain significance not specified 2023-03-28 criteria provided, single submitter clinical testing The c.598T>C (p.Y200H) alteration is located in exon 2 (coding exon 1) of the B3GALT2 gene. This alteration results from a T to C substitution at nucleotide position 598, causing the tyrosine (Y) at amino acid position 200 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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