ClinVar Miner

Submissions for variant NM_003783.3(B3GALT2):c.958T>A (p.Ser320Thr)

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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 RCV004882409 SCV005529714 uncertain significance not specified 2024-11-14 criteria provided, single submitter clinical testing The c.958T>A (p.S320T) alteration is located in exon 2 (coding exon 1) of the B3GALT2 gene. This alteration results from a T to A substitution at nucleotide position 958, causing the serine (S) at amino acid position 320 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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