ClinVar Miner

Submissions for variant NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) (rs119483085)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469692 SCV000551845 pathogenic Charcot-Marie-Tooth disease type 4 2019-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg148*) in the NDRG1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal recessive Charcot Marie Tooth in several families (PMID: 10831399, 23996628, 25108819, 21892769, 25231362, 17470135). It is a common cause of Charcot-Marie-Tooth disease in individuals of Roma ancestry. ClinVar contains an entry for this variant (Variation ID: 5120). Loss-of-function variants in NDRG1 are known to be pathogenic (PMID: 12872253, 23996628). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092150 SCV001248527 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
OMIM RCV000005427 SCV000025609 pathogenic Charcot-Marie-Tooth disease, type 4D 2007-04-01 no assertion criteria provided literature only
GeneReviews RCV000005427 SCV000054532 pathologic Charcot-Marie-Tooth disease, type 4D 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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