ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1348-1G>A

gnomAD frequency: 0.00009  dbSNP: rs747659617
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551707 SCV000652018 likely pathogenic Charcot-Marie-Tooth disease axonal type 2P 2019-07-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 of the LRSAM1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs747659617, ExAC 0.2%). This variant has not been reported in the literature in individuals with LRSAM1-related conditions. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LRSAM1 are known to be pathogenic (PMID: 20865121). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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