ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) (rs397508700)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000577350 SCV001167215 likely pathogenic Cystic fibrosis 2019-10-04 criteria provided, single submitter clinical testing This CFTR variant is absent from large population datasets. This variant is present in ClinVar by one submitter, however a classification was not provided. Multiple patients have been reported to carry this variant along with a second disease-causing CFTR variant; in one of these cases the variants were confirmed to be on opposite chromosomes (in trans). Of two bioinformatics tools queried, one predicts that the substitution would be possibly damaging, while the second predicts that it would be tolerated. The alanine residue at this position is highly evolutionarily conserved across most species assessed. We consider this variant likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577350 SCV000679148 not provided Cystic fibrosis no assertion provided literature only

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