ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1808_1809del (p.Thr603fs)

dbSNP: rs886039361
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255773 SCV000321635 pathogenic not provided 2018-09-14 criteria provided, single submitter clinical testing The c.1397_1398delCA variant in the FGD4 gene causes a frameshift starting with codon Threonine 466, changes this amino acid to a Serine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Thr466SerfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is interpreted to be a pathogenic variant.

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