ClinVar Miner

Submissions for variant NM_002936.6(RNASEH1):c.526C>T (p.Leu176Phe)

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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 RCV003388716 SCV004100449 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 criteria provided, single submitter clinical testing The missense variant p.L176F in RNASEH1 (NM_002936.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.L176F variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes.The p.L176F missense variant is predicted to be damaging by both SIFT and PolyPhen2. The leucine residue at codon 176 of RNASEH1 is conserved in all mammalian species. The nucleotide c.526 in RNASEH1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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