ClinVar Miner

Submissions for variant NM_030765.4(B3GNT4):c.537T>G (p.Asp179Glu)

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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 RCV005293186 SCV005960454 uncertain significance not specified 2025-01-21 criteria provided, single submitter clinical testing The c.537T>G (p.D179E) alteration is located in exon 3 (coding exon 2) of the B3GNT4 gene. This alteration results from a T to G substitution at nucleotide position 537, causing the aspartic acid (D) at amino acid position 179 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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