ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) (rs1569291699)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000736087 SCV000864353 likely pathogenic Mental retardation, X-linked 1 2017-12-11 criteria provided, single submitter clinical testing PVS1, PM2; This variant leads to a stop codon at amino acid 1273 (of 1488 in the full length protein), likely leading to a null protein [ACMG: PVS1]. Multiple loss of function pathogenic variants have been described, even farther into the protein, consistent with this variant likely being pathogenic. This variant is not present in population databases [ACMG: PM2]. This variant is therefore classified as likely pathogenic.

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