ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)

dbSNP: rs763023697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668239 SCV000792811 pathogenic Alpha-1-antitrypsin deficiency 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV000668239 SCV001591487 pathogenic Alpha-1-antitrypsin deficiency 2020-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SERPINA1 protein. Other variant(s) that disrupt this region (p.Glu387Argfs*14) have been determined to be pathogenic (PMID: 9070606, 11334395, 22016686). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been reported to affect SERPINA1 protein function (PMID: 2539391). This variant has been observed in individual(s) with alpha-1-antitrypsin deficiency (PMID: 2539391, 21457231). It has also been observed to segregate with disease in related individuals. This variant is also known as Null Mattawa, L353fsX376, c.1126->T and Q0nancy in the literature. ClinVar contains an entry for this variant (Variation ID: 552891). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change results in a premature translational stop signal in the SERPINA1 gene (p.Leu377Phefs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acids of the SERPINA1 protein.
Baylor Genetics RCV000668239 SCV004203121 pathogenic Alpha-1-antitrypsin deficiency 2023-09-12 criteria provided, single submitter clinical testing
Child Health and Human Development Program, Research Institute of the McGill University Health Center RCV000668239 SCV001424552 pathogenic Alpha-1-antitrypsin deficiency no assertion criteria provided clinical testing The homozygous duplication of a single nucleotide [c.1130dup (p.Leu377fs)] in SERPINA1 was identified in a 65 year old female of Latin American origin being treated for emphysema. Her AAT level was 0.10 g/L. The AAT reference range at our institution is 0.99-2.59 g/L.

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