ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.727G>A (p.Glu243Lys)

dbSNP: rs1473544417
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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 RCV000697707 SCV000826333 uncertain significance MHC class I deficiency 2018-02-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TAP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 243 of the TAP2 protein (p.Glu243Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.
Ambry Genetics RCV004965684 SCV005511120 uncertain significance Inborn genetic diseases 2024-08-07 criteria provided, single submitter clinical testing The c.727G>A (p.E243K) alteration is located in exon 4 (coding exon 3) of the TAP2 gene. This alteration results from a G to A substitution at nucleotide position 727, causing the glutamic acid (E) at amino acid position 243 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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