ClinVar Miner

Submissions for variant NM_152730.6(TBC1D32):c.1217A>T (p.His406Leu)

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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 RCV005283040 SCV005952907 uncertain significance Inborn genetic diseases 2025-01-14 criteria provided, single submitter clinical testing The c.1217A>T (p.H406L) alteration is located in exon 11 (coding exon 11) of the TBC1D32 gene. This alteration results from a A to T substitution at nucleotide position 1217, causing the histidine (H) at amino acid position 406 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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