ClinVar Miner

Submissions for variant NM_014883.4(FAM13A):c.843+16335C>A

gnomAD frequency: 0.73777  dbSNP: rs2609255
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001788481 SCV001712126 association Interstitial lung disease 2 2021-05-04 no assertion criteria provided case-control
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001788482 SCV001712131 association Chronic obstructive pulmonary disease 2021-05-04 no assertion criteria provided case-control
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV002472378 SCV001749000 uncertain significance Combined pulmonary fibrosis-emphysema syndrome 2021-05-04 no assertion criteria provided case-control
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV004995924 SCV005044895 uncertain significance Susceptibility to severe coronavirus disease (COVID-19) 2024-05-13 no assertion criteria provided research The NC_000004.12:g.88890044G>T (rs2609255) is an intron variant in FAM13A (family with sequence similarity 13 member A), which has been associated with risk of chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis. We evaluated this variant in 923 patients with COVID-19 and we found no association with mortality or severity risk. However, in the post-COVID-19 group, we found that the T allele of rs2609255 was associated with lower diffusing capacity of the lungs for carbon monoxide in patients evaluated one year after discharge due to severe COVID-19. Due to the lack of association of the variant with the studied phenotypes, it was classified as uncertain significance.

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