ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.910G>T (p.Ala304Ser)

dbSNP: rs782768117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060894 SCV001225612 uncertain significance Intellectual disability, X-linked 1 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 304 of the IQSEC2 protein (p.Ala304Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IQSEC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 855595). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IQSEC2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Preventiongenetics, part of Exact Sciences RCV003405274 SCV004111908 uncertain significance IQSEC2-related condition 2023-03-07 criteria provided, single submitter clinical testing The IQSEC2 c.910G>T variant is predicted to result in the amino acid substitution p.Ala304Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0025% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-53285071-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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