ClinVar Miner

Submissions for variant NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)

dbSNP: rs143370956
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178751 SCV000230897 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing
Mendelics RCV000148874 SCV001139502 benign Alpha-1-antitrypsin deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000148874 SCV002458748 likely benign Alpha-1-antitrypsin deficiency 2024-06-04 criteria provided, single submitter clinical testing
OMIM RCV000019562 SCV000039859 other PI P(ST. ALBANS) 2016-07-15 no assertion criteria provided literature only
CSER _CC_NCGL, University of Washington RCV000148874 SCV000190618 likely benign Alpha-1-antitrypsin deficiency 2014-06-01 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004748529 SCV005361921 uncertain significance SERPINA1-related disorder 2024-07-03 no assertion criteria provided clinical testing The SERPINA1 c.1093G>A variant is predicted to result in the amino acid substitution p.Asp365Asn. This variant is also known as p.Asp341Asn and P Saint Albans and has been associated with normal levels of alpha-1 antitrypsin in serum (Holmes et al. 1990. PubMed ID: 2240842). This variant was suggested to be in cis (i.e. on the same chromosome) with a pathogenic allele known as the Z allele (p.Glu366Lys) in a patient, but it was not considered to be a cause of disease in the patient (Graham et al. 2015. PubMed ID: 26321041). This variant has been characterized as a variant of uncertain significance in one study (Dorschner et al. 2013. PubMed ID: 24055113), but more recent studies considered this variant as a normal allele (Amendola et al. 2015. PubMed ID: 25637381; Wiesemann et al. 2022. PubMed ID: 36367950). This variant is reported in 0.14% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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