ClinVar Miner

Submissions for variant NM_001440.4(EXTL3):c.1073A>T (p.Gln358Leu)

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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 RCV003085143 SCV003485027 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 358 of the EXTL3 protein (p.Gln358Leu). This variant is present in population databases (rs764259950, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with EXTL3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004073261 SCV004865074 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.1073A>T (p.Q358L) alteration is located in exon 3 (coding exon 1) of the EXTL3 gene. This alteration results from a A to T substitution at nucleotide position 1073, causing the glutamine (Q) at amino acid position 358 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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