ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) (rs138226428)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231111 SCV000291319 pathogenic Charcot-Marie-Tooth disease type 2P 2017-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 427 (p.Arg427*) of the LRSAM1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss of function variants in LRSAM1 are known to cause autosomal recessive Charcot-Marie-Tooth disease (PMID: 20865121). ClinVar contains an entry for this variant (Variation ID: 241836). For these reasons, this variant has been classified as Pathogenic.

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