ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.73G>C (p.Gly25Arg)

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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 RCV002751111 SCV003020041 uncertain significance Cranium bifidum occultum 2023-06-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1978706). This variant has not been reported in the literature in individuals affected with MSX2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 25 of the MSX2 protein (p.Gly25Arg). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV002741916 SCV003556722 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.73G>C (p.G25R) alteration is located in exon 1 (coding exon 1) of the MSX2 gene. This alteration results from a G to C substitution at nucleotide position 73, causing the glycine (G) at amino acid position 25 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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