ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) (rs121913599)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517209 SCV000614109 pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV001060346 SCV001225027 pathogenic Charcot-Marie-Tooth disease, type I 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 131 of the MPZ protein (p.Asn131Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 10553995, 12940837). It has also been observed to segregate with disease in related individuals. This variant is also known as 727C>A in the literature. ClinVar contains an entry for this variant (Variation ID: 14186). 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. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015250 SCV000035509 pathogenic Roussy-Lévy syndrome 1999-11-01 no assertion criteria provided literature only
GeneReviews RCV000192587 SCV000243904 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only

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