ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.653C>T (p.Ala218Val) (rs121909151)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000008223 SCV000677986 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2015-06-14 criteria provided, single submitter clinical testing
GeneReviews RCV000008223 SCV000055660 pathologic Rhizomelic chondrodysplasia punctata type 1 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000032925 SCV000776819 likely pathogenic Peroxisome biogenesis disorder 9B 2018-01-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 218 of the PEX7 protein (p.Ala218Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs121909151, ExAC 0.003%). This variant has been reported as homozygous or in combination with another PEX7 variant in several individuals affected with rhizomelic chondrodysplasia punctata (PMID: 9090381, 10083738, 12325024, 11781871). ClinVar contains an entry for this variant (Variation ID: 7781). Experimental studies have shown that this missense change reduces binding to both PTS2 and PEX5pL resulting in impairment of peroxisomal import of PTS2 (PMID: 11756410, 11781871). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes RCV000656252 SCV000778213 pathogenic not provided 2016-08-26 no assertion criteria provided clinical testing
OMIM RCV000008223 SCV000028430 pathogenic Rhizomelic chondrodysplasia punctata type 1 1997-04-01 no assertion criteria provided literature only
OMIM RCV000032925 SCV000056697 pathogenic Peroxisome biogenesis disorder 9B 1997-04-01 no assertion criteria provided literature only

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