ClinVar Miner

Submissions for variant NM_032785.4(AGBL4):c.876G>T (p.Trp292Cys)

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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 RCV004906930 SCV005571713 uncertain significance not specified 2024-11-11 criteria provided, single submitter clinical testing The c.876G>T (p.W292C) alteration is located in exon 9 (coding exon 9) of the AGBL4 gene. This alteration results from a G to T substitution at nucleotide position 876, causing the tryptophan (W) at amino acid position 292 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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