ClinVar Miner

Submissions for variant NM_001493.3(GDI1):c.827G>A (p.Arg276His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004574979 SCV005050222 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing GDI1: PP2, BS2
Ambry Genetics RCV004634420 SCV005123818 uncertain significance Inborn genetic diseases 2024-06-05 criteria provided, single submitter clinical testing The c.827G>A (p.R276H) alteration is located in exon 8 (coding exon 8) of the GDI1 gene. This alteration results from a G to A substitution at nucleotide position 827, causing the arginine (R) at amino acid position 276 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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