ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) (rs199422209)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409001 SCV000486942 likely pathogenic Alpha-1-antitrypsin deficiency 2016-09-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727230 SCV000706787 pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000409001 SCV001449018 pathogenic Alpha-1-antitrypsin deficiency 2019-07-03 criteria provided, single submitter clinical testing
Invitae RCV000409001 SCV001591259 pathogenic Alpha-1-antitrypsin deficiency 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 393 of the SERPINA1 protein (p.Pro393Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs199422209, ExAC 0.006%). This variant has been observed in individual(s) with autosomal recessive alpha-1-antitrypsin deficiency (AATD) (PMID: 2784123, 10234508, 18024524). This variant is also known as MHerleen and as Pro369Leu in the literature). ClinVar contains an entry for this variant (Variation ID: 17965). This variant has been reported to affect SERPINA1 protein function (PMID: 10234508). This variant disrupts the p.Pro393 amino acid residue in SERPINA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27296815, 18024524, 10234508, 27296815). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019565 SCV000039862 other PI M(HEERLEN) 2016-07-20 no assertion criteria provided literature only
GeneReviews RCV000409001 SCV000256621 pathogenic Alpha-1-antitrypsin deficiency 2014-05-01 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000409001 SCV000608300 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided clinical testing

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