ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Program, Stanford Medicine RCV001254177 SCV001427223 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2020-02-11 no assertion criteria provided clinical testing The p.Arg412Gln variant in the SMC1A gene has not been previously reported in association with disease, and was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The SMC1A gene has fewer missense variants in the general population than expected. A low rate of missense variation may suggest that this gene is intolerant to missense variation. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Arg412Gln variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2; PP2]

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