ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2029_2046+7del

dbSNP: rs1836374325
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216884 SCV001388702 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2019-05-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Disruption of the donor splice site of exon 24 has been observed in a family affected with Charcot-Marie-Tooth disease (PMID: 24894446). This variant is a deletion of the genomic region encompassing part of exon 24 (c.2029_2046+7del) of the LRSAM1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

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