ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.3130C>T (p.Arg1044Cys) (rs797044896)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190720 SCV000244161 pathogenic Inborn genetic diseases 2013-07-30 criteria provided, single submitter clinical testing ​The c.3196C>T (p.R1066C) alteration is located in coding exon 21 of the SMC1A gene. This alteration results from a C to T substitution at nucleotide position 3196. The arginine at codon 1066 is replaced by cysteine, an amino acid with highly dissimilar properties.The missense change is not observed in healthy cohorts:Based on data from the NHLBI Exome Sequencing Project (ESP), the SMC1A c.3196C>T (p.R1066C) alteration was not observed among 6,503 individuals tested (0.0%). Allele frequency data for this nucleotide position is not currently available from the 1000 Genomes Project and the alteration is not currently listed in the Database of Single Nucleotide Polymorphisms (dbSNP).The altered amino acid is conserved throughout evolution:The R1066 amino acid is conserved throughout vertebrates.The alteration is predicted deleterious by in silico models:The p.R1066C alteration is predicted to be probably damaging by Polyphen and deleterious by SIFT in silico analyses.The alteration was detected in our laboratory via exome sequencing in a patient with phenotypic features consistent with the established SMC1A disease association. Co-segregation analysis revealed the absence of the alteration in the patient's mother and father, indicating a likely de novo mutation occurrence.Based on the available evidence, theSMC1Ac.3196C>T (p.R1066C) alteration is classified as a pathogenic mutation.

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