ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.1097G>A (p.Arg366Gln)

gnomAD frequency: 0.00001  dbSNP: rs372945501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754404 SCV001987527 uncertain significance not provided 2019-07-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002543934 SCV003687807 uncertain significance Inborn genetic diseases 2022-12-27 criteria provided, single submitter clinical testing The c.1097G>A (p.R366Q) alteration is located in exon 7 (coding exon 7) of the CDT1 gene. This alteration results from a G to A substitution at nucleotide position 1097, causing the arginine (R) at amino acid position 366 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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