ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.138G>C (p.Gln46His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002683053 SCV003549500 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.138G>C (p.Q46H) alteration is located in exon 2 (coding exon 1) of the TRIM32 gene. This alteration results from a G to C substitution at nucleotide position 138, causing the glutamine (Q) at amino acid position 46 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005050770 SCV005682458 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-02-28 criteria provided, single submitter clinical testing

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