ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.40A>G (p.Lys14Glu) (rs397508673)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586965 SCV000697006 uncertain significance not provided 2016-06-29 criteria provided, single submitter clinical testing Variant summary: The CFTR c.40A>G (p.Lys14Glu) variant causes a missense change involving a conserved nucleotide, resulting in a replacement of a large, basic amino acid, Lysine (K) with a medium, acidic amino acid, Glutamic acid (E) located outside of a known functional domain. 2/4 in silico tools (MutationTaster not captured here due to low p-value) predict a benign outcome for this substitution. This variant is absent in 120934 control chromosomes. It has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/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 has been classified as a variant of uncertain significance (VUS), until additional information becomes available.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586965 SCV000859015 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing

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