ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1493_1494del (p.Glu498fs)

dbSNP: rs1588132672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799835 SCV000939517 pathogenic Charcot-Marie-Tooth disease axonal type 2P 2020-02-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LRSAM1 are known to be pathogenic (PMID: 20865121). This variant has not been reported in the literature in individuals with LRSAM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 645695). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu498Valfs*43) in the LRSAM1 gene. It is expected to result in an absent or disrupted protein product.

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