ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.347dup (p.Glu117fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338094 SCV004047007 likely pathogenic Nephronophthisis 15 criteria provided, single submitter clinical testing The frame shift (p.Glu117GlyfsTer88) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu117GlyfsTer88 variant is novel (not in any individuals) in 1000 Genomes and has allele frequency of 2.18% in gnomAD database. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Glutamic Acid 117, changes this amino acid to Glycine residue, and creates a premature Stop codon at position 88 of the new reading frame, denoted p.Glu117GlyfsTer88. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant the molecular diagnosis is not confirmed.
Invitae RCV003338094 SCV004661320 benign Nephronophthisis 15 2023-11-24 criteria provided, single submitter clinical testing

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