ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.584+2T>G (rs879254054)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235519 SCV000293316 pathogenic not provided 2015-11-19 criteria provided, single submitter clinical testing The c.584+2 T>G splice site variant in the MPZ gene has been previously reported, using alternative nomeclature of c.614+2 T>G, in association with CMT1B, and RT-PCR studies on dermal skin biopsies confirmed that c.584+2 T>G is associated with abnormal splicing (Sabet et al., 2006). This pathogenic variant destroys the canonical splice donor site in intron 4, and is expected to cause abnormal gene splicing. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
OMIM RCV000015261 SCV000035520 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2006-10-10 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790116 SCV000929506 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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