ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001270900 SCV001451681 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2019-06-10 criteria provided, single submitter clinical testing The SMC1A c.1958C>T (p.Ser653Phe) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Ser653Phe variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Analyses by multiple in silico tools predict that the variant is deleterious. Based on the variant’s apparent de novo state, the presence of the variant in affected relatives, its rarity, and application of the ACMG criteria, the SMC1A p.Ser653Phe variant is classified as pathogenic for Cornelia de Lange syndrome.

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