ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.1136G>A (p.Gly379Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001257422 SCV001429634 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2020-06-01 criteria provided, single submitter clinical testing A homozygous missense variation in exon 11 of the ABCA3 gene that results in the amino acid substitution of Aspartic acid for Glycine at codon 379 was detected. The observed variant c.1136G>A (p.Gly379Asp) has not been reported in the 1000 genomes and ExAC databases. The variant lies in the ABC-2 transporter domain of the protein. The in silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT and MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

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