ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter)

gnomAD frequency: 0.00001  dbSNP: rs1156243243
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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 RCV001386892 SCV001587290 pathogenic Charcot-Marie-Tooth disease axonal type 2P 2020-09-04 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln330*) in the LRSAM1 gene. It is expected to result in an absent or disrupted protein product.

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