ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1210G>C (p.Gly404Arg) (rs200899224)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589364 SCV000696830 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1210G>C (p.Gly404Arg) variant involves the alteration of a conserved nucleotide causing a missense change, which 4/5 in silico tools predict a damaging outcome for this variant. The variant of interest is also located at the last 3' position of exon 10 (a known exon/intron junction), which 4/5 splice prediction tools predict weakening effect on a canonical splicing acceptor. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 12/110990 control chromosomes at a frequency of 0.0001081, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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