ClinVar Miner

Submissions for variant NM_000902.4(MME):c.467del (p.Pro156fs) (rs749320057)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489776 SCV000577528 pathogenic not provided 2018-10-16 criteria provided, single submitter clinical testing The c.467delC variant in the MME gene has been reported previously to segregate with disease in two unrelated families with autosomal dominant late-onset peripheral neuropathy (Auer-Grumbach et al., 2016). Additionally, this variant was reported as homozygous in two mothers, and compound heterozygous with a MME nonsense variant in a third mother, all of whom had children with neonatal membranous glomerulopathy due to alloimmunization; presence or absence of neuropathy in these families was not noted (Debiec et al., 2004). The c.467delC variant causes a frameshift starting with codon Proline 156, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Pro156LeufsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.467delC variant is observed in 25/34288 (0.07%) alleles from individuals of Latino background, and no individuals were reported to be homozygous (Lek et al., 2016). We interpret c.467delC as a pathogenic variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000489776 SCV001247099 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
OMIM RCV000255813 SCV000322710 risk factor Charcot-Marie-Tooth disease, axonal, type 2T 2016-10-06 no assertion criteria provided literature only

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