ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)

gnomAD frequency: 0.00001  dbSNP: rs550761834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948402 SCV002201262 uncertain significance Exostoses, multiple, type 2 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 214 of the EXT2 protein (p.Gly214Ser). This variant is present in population databases (rs550761834, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1430637). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt EXT2 protein function with a negative predictive value of 95%. 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 RCV003167335 SCV003879622 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.640G>A (p.G214S) alteration is located in exon 4 (coding exon 3) of the EXT2 gene. This alteration results from a G to A substitution at nucleotide position 640, causing the glycine (G) at amino acid position 214 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001948402 SCV004192779 uncertain significance Exostoses, multiple, type 2 2023-10-30 criteria provided, single submitter clinical testing

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