ClinVar Miner

Submissions for variant NM_021815.5(SLC5A7):c.1113+2T>A

dbSNP: rs2104379614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo RCV002221639 SCV001977113 likely pathogenic Charcot-Marie-Tooth disease type 2 2021-07-20 criteria provided, single submitter research The c.1113+2T>A variant in the SLC5A7 gene has not been reported in the literature in individuals with SLC5A7-related conditions. Variants in this gene are responsible for congenital myasthenic syndrome type 20 (AR-CMS20; OMIM: 617143) and dHMN type VIIA (AD; OMIM: 158580). Our lab found it once, in homozygous, in a 1-years-old male with CMT2 phenotype. This variant is in a canonical splice-site and is predicted to affect mRNA splicing, usually leading to a loss of protein function (PMID: 25741868; PMID: 30192042). This variant is not present in population databases (GnomAD and ABraOM), suggesting it is not a common benign variant in these populations. In summary, the c.1113+2T>A variant meets our criteria to be classified as likely pathogenic.

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