ClinVar Miner

Submissions for variant NM_001440.4(EXTL3):c.82C>T (p.Arg28Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079999 SCV003479954 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs747658857, gnomAD 0.006%). 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 not expected to disrupt EXTL3 protein function. ClinVar contains an entry for this variant (Variation ID: 2166276). This variant has not been reported in the literature in individuals affected with EXTL3-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 28 of the EXTL3 protein (p.Arg28Cys).
Ambry Genetics RCV003080000 SCV003690127 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.82C>T (p.R28C) alteration is located in exon 3 (coding exon 1) of the EXTL3 gene. This alteration results from a C to T substitution at nucleotide position 82, causing the arginine (R) at amino acid position 28 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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