ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.1211G>A (p.Arg404Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002283064 SCV002571232 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003269156 SCV003977142 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.1277G>A (p.R426Q) alteration is located in exon 12 (coding exon 12) of the GANAB gene. This alteration results from a G to A substitution at nucleotide position 1277, causing the arginine (R) at amino acid position 426 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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