ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) (rs556880586)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000149423 SCV000886165 likely pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000149423 SCV001506096 uncertain significance Cystic fibrosis 2020-02-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 373 of the CFTR protein (p.Asp373Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs556880586, ExAC 0.009%). This variant has been observed in individual(s) with CFTR-related conditions (PMID: 27022295). ClinVar contains an entry for this variant (Variation ID: 161998). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Nilou-Genome Lab RCV000149423 SCV001822037 uncertain significance Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas RCV000149423 SCV000196070 pathogenic Cystic fibrosis 2013-10-01 no assertion criteria provided research

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