ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1588G>A (p.Ala530Thr)

gnomAD frequency: 0.00001  dbSNP: rs746426982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003245099 SCV003952900 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.1177G>A (p.A393T) alteration is located in exon 9 (coding exon 7) of the FGD4 gene. This alteration results from a G to A substitution at nucleotide position 1177, causing the alanine (A) at amino acid position 393 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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