ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.541G>T (p.Val181Leu) (rs148412181)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049613 SCV000485419 likely pathogenic Ceroid lipofuscinosis neuronal 1 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000436288 SCV000520956 likely pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing The V181L variant in the PPT1 gene has been reported previously in association with late-infantile and juvenile neuronal ceroid lipofuscinosis when present in the homozygous state or when in trans with another disease-causing variant (Mole et al., 2009; Simonati et al., 2009; Pérez-Poyato et al., 2011). The V181L variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V181L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The V181L variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049613 SCV000082020 probable-pathogenic Ceroid lipofuscinosis neuronal 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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