ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.598T>G (p.Phe200Val)

dbSNP: rs397508766
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000850153 SCV000992337 uncertain significance Cystic fibrosis 2019-02-11 criteria provided, single submitter clinical testing This CFTR variant is absent from large population datasets and has not been reported in ClinVar not the literature, to our knowledge. Of two bioinformatics tools queried, one predicts that the substitution would be probably damaging, while the second predicts that it would be tolerated. The phenylalanine residue at this position is highly evolutionarily conserved across all but one species assessed. Bioinformatic analysis predicts that this variant would not affect normal exon 6 (legacy exon 6a) splicing, although this has not been confirmed experimentally to our knowledge. The clinical significance of c.598T>G is uncertain at this time.

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