ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1196+647G>T

dbSNP: rs2146025928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001728175 SCV001976613 uncertain significance Autosomal dominant centronuclear myopathy 2021-06-24 criteria provided, single submitter clinical testing The variant c.1222G>T (p.Ala408Ser) in the DNM2 gene has not been reported in the dbSNP, gnomAD, or ClinVar databases. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.7). In silico analysis indicates that the variant might be damaging.

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