ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.428C>T (p.Thr143Met) (rs750724650)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638163 SCV000759649 uncertain significance Charcot-Marie-Tooth disease, type I 2017-12-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 143 of the MPZ protein (p.Thr143Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs750724650, ExAC 0.03%). This variant has been reported in an individual affected with Charcot-Marie-Tooth disease (CMT) and has been reported to segregate with CMT in a single family (PMID: 20456450). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV001097625 SCV001253922 uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 1b 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001097626 SCV001253923 uncertain significance Congenital hypomyelinating neuropathy 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001097627 SCV001253924 uncertain significance Charcot-Marie-Tooth disease dominant intermediate d 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001097628 SCV001253925 uncertain significance Roussy-Lévy syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Inherited Neuropathy Consortium RCV000790102 SCV000929492 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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