ClinVar Miner

Submissions for variant NM_001330288.2(SMARCC2):c.708G>T (p.Lys236Asn)

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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 Laboratory, Stanford Medicine RCV005001939 SCV005627204 uncertain significance Coffin-Siris syndrome 8 2022-02-10 criteria provided, single submitter clinical testing The p.Lys236Asn variant in the SMARCC2 gene has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The lysine at position 236 is evolutionarily conserved. The p.Lys236Asn variant occurs at the 5’ splice junction of exon 8 and computational tools predict an impact to splicing. However, the accuracy of these computational tools is limited. The SMARCC2 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.Lys236Asn variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2; PP3]

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