ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.442C>T (p.Arg148Ter) (rs119483085)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000005427 SCV000054532 pathologic Charcot-Marie-Tooth disease, type 4D 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000469692 SCV000551845 pathogenic Charcot-Marie-Tooth disease type 4 2016-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 148 (p.Arg148*) of the NDRG1 gene. It is expected to result in an absent or disrupted protein product. This variant is clearly defined as a hereditary motor and sensory neuropathy-Lom (HMSNL) causative allele and has been reported 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005427 SCV000025609 pathogenic Charcot-Marie-Tooth disease, type 4D 2007-04-01 no assertion criteria provided literature only

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