ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) (rs145087575)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150116 SCV000196940 likely benign not specified 2014-08-14 criteria provided, single submitter clinical testing Asp123Asn in exon 6 of ABCA3: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. Of not e, 5 mammals (naked mole rat, weddell seal, elephant, opossum, and Tasmanian dev il) have an asparagine (Asn) at this position despite high nearby amino acid con servation. In addition, computational prediction tools do not suggest a high lik elihood of impact to the protein. This variant has also been identified in 6/860 0 of European American chromosomes by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs145087575).
Mendelics RCV000989468 SCV001139801 benign Surfactant metabolism dysfunction, pulmonary, 3 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000989468 SCV001280597 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2017-08-29 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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