ClinVar Miner

Submissions for variant NM_152730.6(TBC1D32):c.1907A>G (p.His636Arg)

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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 RCV004971351 SCV005519249 uncertain significance Inborn genetic diseases 2024-11-28 criteria provided, single submitter clinical testing The c.1907A>G (p.H636R) alteration is located in exon 16 (coding exon 16) of the TBC1D32 gene. This alteration results from a A to G substitution at nucleotide position 1907, causing the histidine (H) at amino acid position 636 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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