ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.844G>A (p.Gly282Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research RCV003129617 SCV003806312 uncertain significance Squamous cell carcinoma 2022-06-06 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801314 SCV005423196 uncertain significance not specified 2024-10-30 criteria provided, single submitter clinical testing Variant summary: SERPINA1 c.844G>A (p.Gly282Arg) results in a non-conservative amino acid change located in the Serpin domain (IPR023796) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251486 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.844G>A has been reported in the literature in individuals affected with Alpha-1-Antitrypsin Deficiency (Silva_2016, Wiesemann_2023). These report(s) do not provide unequivocal conclusions about association of the variant with Alpha-1-Antitrypsin Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. This variant is also known as W Springfield and p.Gly258Arg. The following publications have been ascertained in the context of this evaluation (PMID: 27296815, 36367950). ClinVar contains an entry for this variant (Variation ID: 2431084). Based on the evidence outlined above, the variant was classified as uncertain significance.

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