ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4053G>C (p.Lys1351Asn) (rs763602969)

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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 RCV000586919 SCV000697003 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing Variant summary: The CFTR c.4053G>C (p.Lys1351Asn) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 121348 control chromosomes. The variant of interest 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 is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Counsyl RCV000672552 SCV000797665 uncertain significance Cystic fibrosis 2018-02-06 criteria provided, single submitter clinical testing

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