ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.4002T>A (p.Tyr1334Ter)

dbSNP: rs2519670710
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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 RCV002357822 SCV002621101 likely pathogenic Inborn genetic diseases 2018-09-05 criteria provided, single submitter clinical testing The p.Y1334* variant (also known as c.4002T>A), located in coding exon 15 of the IQSEC2 gene, results from a T to A substitution at nucleotide position 4002. This changes the amino acid from a tyrosine to a stop codon within coding exon 15. Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of IQSEC2 and is not expected to trigger nonsense-mediated mRNA decay. This variant impacts the last 200 amino acids of the protein. This alteration abolishes important protein-protein interactions and eliminates the PDZ binding motif (Ambry internal data; Ramage R et al. Biochem. J., 1994 Apr;299 ( Pt 1):151-8; Brown JC et al. Nat Commun, 2016 Mar;7:11080). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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