ClinVar Miner

Submissions for variant NM_014832.5(TBC1D4):c.3122G>A (p.Arg1041His)

gnomAD frequency: 0.00003  dbSNP: rs199560195
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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 RCV004026173 SCV003753947 uncertain significance not specified 2022-06-21 criteria provided, single submitter clinical testing The c.3122G>A (p.R1041H) alteration is located in exon 17 (coding exon 17) of the TBC1D4 gene. This alteration results from a G to A substitution at nucleotide position 3122, causing the arginine (R) at amino acid position 1041 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Medical Research Institute, Tokyo Medical and Dental University RCV000755002 SCV000809011 pathogenic Insulin resistance 2017-10-04 no assertion criteria provided research Patient, a 25 year-old man, was obese and showed acanthosis nigricans. He also showed hyperglycemia and he had severe insulin resistance. The combined heterozygous mutations of TBC1D4 (maternally inherited) and MC4R (paternally inherited) were confirmed.

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