ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049060 SCV001213094 likely pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 912 of the PEX6 protein (p.Ala912Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs62641232, ExAC 0.001%). This variant has been observed in individual(s) with Zellweger syndrome (PMID: 26669662, 27779215). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Natera, Inc. RCV001274622 SCV001458947 likely pathogenic Zellweger syndrome 2020-09-16 no assertion criteria provided clinical testing

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