ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs)

dbSNP: rs775965001
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351203 SCV001545645 pathogenic Charcot-Marie-Tooth disease axonal type 2P 2021-04-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln653Profs*8) in the LRSAM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRSAM1 are known to be pathogenic (PMID: 20865121, 33414056). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LRSAM1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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