ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6377C>T (p.Thr2126Ile)

dbSNP: rs2100993899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932507 SCV002128913 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing 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. 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 expected to disrupt ABCA4 protein function. This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 2126 of the ABCA4 protein (p.Thr2126Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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