ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1349_1352del (p.Asn450fs)

dbSNP: rs863223990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200843 SCV000251458 pathogenic not provided 2013-09-05 criteria provided, single submitter clinical testing The c.1349_1352delATGA mutation in the FH gene causes a frameshift starting with codon Asparagine 450, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Ans450SerfsX3. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of HLRCC. The variant is found in FH panel(s).

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