ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.3626A>G (p.Asn1209Ser) (rs782012594)

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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 RCV000715878 SCV000846710 uncertain significance History of neurodevelopmental disorder 2018-05-30 criteria provided, single submitter clinical testing The p.N1231S variant (also known as c.3692A>G), located in coding exon 25 of the SMC1A gene, results from an A to G substitution at nucleotide position 3692. The asparagine at codon 1231 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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