ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)

dbSNP: rs1562892293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000757785 SCV000886157 likely pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000757785 SCV002707154 uncertain significance Cystic fibrosis 2016-11-23 criteria provided, single submitter clinical testing The p.A349P variant (also known as c.1045G>C), located in coding exon 8 of the CFTR gene, results from a G to C substitution at nucleotide position 1045. The alanine at codon 349 is replaced by proline, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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