ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val)

gnomAD frequency: 0.00001  dbSNP: rs864622046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HerediLab, Inc. RCV000205912 SCV000259192 likely benign Alpha-1-antitrypsin deficiency 2015-10-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731082 SCV000858854 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586623 SCV005076685 uncertain significance not specified 2024-04-11 criteria provided, single submitter clinical testing Variant summary: SERPINA1 c.1094A>T (p.Asp365Val) results in a non-conservative amino acid change located in the Serpin domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251350 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1094A>T has been reported in the literature in at least one individual affected with Alpha-1-Antitrypsin Deficiency (Kueppers_2019). This report does 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. The following publication have been ascertained in the context of this evaluation (PMID: 31307431). ClinVar contains an entry for this variant (Variation ID: 219357). Based on the evidence outlined above, the variant was classified as uncertain significance.

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