ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.110+1G>A

dbSNP: rs113187448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251258 SCV002521825 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. The predicted truncated protein may be shortened by more than 10%. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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