ClinVar Miner

Submissions for variant NM_001440.4(EXTL3):c.2444A>T (p.Tyr815Phe)

gnomAD frequency: 0.00001  dbSNP: rs983136504
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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 RCV002017165 SCV002295690 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing 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 EXTL3 protein function. ClinVar contains an entry for this variant (Variation ID: 1501043). This variant has not been reported in the literature in individuals affected with EXTL3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 815 of the EXTL3 protein (p.Tyr815Phe). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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