ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2170_2177del (p.Phe724fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340988 SCV004047912 likely pathogenic Tuberous sclerosis 2 criteria provided, single submitter clinical testing The frameshift c.2170_2177del (p.Phe724ProfsTer35) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Phe724ProfsTer35 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Phenylalanine 724, changes this amino acid to Proline residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Phe724ProfsTer35. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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