ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) (rs141621969)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155457 SCV000520868 likely benign not specified 2015-12-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Johns Hopkins Genomics,Johns Hopkins University RCV000758248 SCV000886888 benign Surfactant metabolism dysfunction, pulmonary, 3 2019-02-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155457 SCV000205148 uncertain significance not specified 2013-11-08 criteria provided, single submitter clinical testing The Ala501Glu variant of ABCA3 has been previously identified in one individual with severe pulmonary hypertension and histological/ultrastructural analyses con sistent with ABCA3 deficiency (Danhaive 2008). This variant is present in 0.46% (40/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs141621969). Alanine (Ala) at positi on 501 is poorly conserved in evolution and other computational analyses (bioche mical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) suggest that the ch ange to glutamic acid (Glu) may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, this variant is less likely disease causing but additional information is needed to fully assess its clinical significance.

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