ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1079G>A (p.Arg360Gln)

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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 RCV002836431 SCV003617604 uncertain significance Inborn genetic diseases 2022-04-28 criteria provided, single submitter clinical testing The c.1079G>A (p.R360Q) alteration is located in exon 10 (coding exon 9) of the TRAPPC11 gene. This alteration results from a G to A substitution at nucleotide position 1079, causing the arginine (R) at amino acid position 360 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140176 SCV003820994 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-09-05 criteria provided, single submitter clinical testing

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