ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3815T>A (p.Val1272Glu) (rs752834717)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589147 SCV000228014 uncertain significance not provided 2015-04-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589147 SCV000696993 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3815T>A (p.Val1272Glu) variant involves the alteration of a conserved nucleotide located in the P-loop containing nucleoside triphosphate hydrolase domain and the ABC transporter-like domain (InterPro).4/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 120940 control chromosomes. One reputable clinical diagnostic laboratory/reputable database has classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000589147 SCV000883589 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The CFTR c.3815T>A; p.Val1272Glu variant (rs752834717), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 195732). This variant is found in the general Latino population with an allele frequency of 0.006% (2/33500 alleles) in the Genome Aggregation Database. The valine at codon 1272 is highly conserved, but computational analyses (SIFT: Tolerated, PolyPhen-2: Probably Damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Val1272Glu variant is uncertain at this time.

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