ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.100G>A (p.Gly34Arg)

gnomAD frequency: 0.00001  dbSNP: rs145218757
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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 RCV000796971 SCV000936507 uncertain significance MHC class I deficiency 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 34 of the TAP2 protein (p.Gly34Arg). 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 variant has not been reported in the literature in individuals affected with TAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 643299). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004965743 SCV005513155 uncertain significance Inborn genetic diseases 2024-11-11 criteria provided, single submitter clinical testing The c.100G>A (p.G34R) alteration is located in exon 2 (coding exon 1) of the TAP2 gene. This alteration results from a G to A substitution at nucleotide position 100, causing the glycine (G) at amino acid position 34 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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