ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.515G>A (p.Arg172Gln)

dbSNP: rs1342329216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260708 SCV001437800 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035383 SCV004870674 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.515G>A (p.R172Q) alteration is located in exon 3 (coding exon 3) of the FGD1 gene. This alteration results from a G to A substitution at nucleotide position 515, causing the arginine (R) at amino acid position 172 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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