ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) (rs142977595)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612210 SCV000711276 likely benign not specified 2019-01-22 criteria provided, single submitter clinical testing The p.Asn124Ser variant in ABCA3 is classified as likely benign because it has has been identified in 0.16% (209/128312) of European and 0.13% (32/23120) of Finnish chromosomes including 1 homozygote by gnomAD (, and because computational prediction tools and conservation analysis suggest that the variant may not impact the protein. ACMG/AMP criteria applied: BS1_Supporting, BP4.
Illumina Clinical Services Laboratory,Illumina RCV001121934 SCV001280596 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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