ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) (rs141650598)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000298949 SCV000342312 likely benign not specified 2018-02-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345924 SCV000470501 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000766589 SCV000576500 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The V1011M variant in the PEX1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1011M variant is observed in 47/16422 (0.29%) alleles from individuals of South Asian background, including 1 homozygous individual, in the ExAC dataset (Lek et al., 2016). The V1011M 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1011M as a variant of uncertain significance.
Invitae RCV000766589 SCV001024312 benign not provided 2019-02-26 criteria provided, single submitter clinical testing

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