ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) (rs764325655)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169195 SCV000220442 likely pathogenic Alpha-1-antitrypsin deficiency 2014-06-21 criteria provided, single submitter literature only
Invitae RCV000169195 SCV000814593 pathogenic Alpha-1-antitrypsin deficiency 2018-01-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SERPINA1 gene (p.Glu387Argfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acids of the SERPINA1 protein. This variant is present in population databases (rs764325655, ExAC 0.009%). This variant has been reported in several individuals affected with alpha-1-antitrypsin deficiency (AATD) (PMID: 7977369, 9070606, 11334395, 22016686). ClinVar contains an entry for this variant (Variation ID: 188845). Experimental studies have shown that this frameshift change results in SERPINA1 protein being retained in the endoplasmic reticulum or Golgi compartment and rapidly degraded (PMID: 9070606). For these reasons, this variant has been classified as Pathogenic.

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