ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) (rs145449046)

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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 RCV000724677 SCV000700817 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999892 SCV000883585 uncertain significance not specified 2019-05-10 criteria provided, single submitter clinical testing The CFTR c.2374C>G; p.Arg792Gly variant (rs145449046) has been described in the compound heterozygous state in one individual with congenital bilateral absence of the vas deferens (Ravnik-Glavac 2000). It is reported as a variant of uncertain significance in ClinVar (Variation ID: 35840) and observed in the Latino population at an overall frequency of 0.095% (21/22002 alleles) in the Genome Aggregation Database. The arginine at codon 792 is highly conserved, and computational algorithms (SIFT, PolyPhen-2) predict that this variant is deleterious. In vitro functional studies of the variant protein demonstrate reduced chloride current and disruption of a consensus recognition site used for CFTR activation (Vankeerberghen 1998). However, due to limited clinical information regarding this variant, its clinical significance cannot be determined with certainty. References: Ravnik-Glavac M et al. Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens. Hum Hered. 2000 Sep-Oct;50(5):318-9. Vankeerberghen A et al. Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Hum Mol Genet. 1998 Oct;7(11):1761-9.
Integrated Genetics/Laboratory Corporation of America RCV000046585 SCV000052146 uncertain significance Cystic fibrosis 2015-10-02 no assertion criteria provided clinical testing

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