ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1815del (p.Asp607fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065554 SCV001230515 pathogenic Charcot-Marie-Tooth disease type 2P 2019-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp607Thrfs*33) in the LRSAM1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747130246, ExAC 0.002%). This variant has not been reported in the literature in individuals with LRSAM1-related conditions. Loss-of-function variants in LRSAM1 are known to be pathogenic (PMID: 20865121). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173627 SCV001336728 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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