ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.689C>T (p.Ala230Val)

gnomAD frequency: 0.00006  dbSNP: rs148507388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731191 SCV000858973 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360855 SCV002666180 uncertain significance Hereditary pulmonary alveolar proteinosis 2015-11-04 criteria provided, single submitter clinical testing The p.A230V variant (also known as c.689C>T), located in coding exon 5 of the ABCA3 gene, results from a C to T substitution at nucleotide position 689. The alanine at codon 230 is replaced by valine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs148507388. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (2/12996) total alleles studied, having been observed in 0.05% (2/4396) African American alleles. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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