ClinVar Miner

Submissions for variant NM_001440.4(EXTL3):c.77G>A (p.Arg26His)

gnomAD frequency: 0.00003  dbSNP: rs146905864
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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 RCV001904257 SCV002125521 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 26 of the EXTL3 protein (p.Arg26His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs146905864, ExAC 0.006%). 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 RCV003164098 SCV003883890 uncertain significance Inborn genetic diseases 2023-01-24 criteria provided, single submitter clinical testing The c.77G>A (p.R26H) alteration is located in exon 3 (coding exon 1) of the EXTL3 gene. This alteration results from a G to A substitution at nucleotide position 77, causing the arginine (R) at amino acid position 26 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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