ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.14G>T (p.Gly5Val)

gnomAD frequency: 0.00005  dbSNP: rs571468892
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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 RCV000796905 SCV000936439 uncertain significance MHC class II deficiency 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 5 of the RFXAP protein (p.Gly5Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RFXAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 643242). 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 RCV004027579 SCV004939385 uncertain significance not specified 2023-11-06 criteria provided, single submitter clinical testing The c.14G>T (p.G5V) alteration is located in exon 1 (coding exon 1) of the RFXAP gene. This alteration results from a G to T substitution at nucleotide position 14, causing the glycine (G) at amino acid position 5 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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