ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1407G>A (p.Met469Ile) (rs143218779)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001192 SCV001158349 uncertain significance not specified 2019-03-29 criteria provided, single submitter clinical testing The CFTR c.1407G>A; p.Met469Ile variant (rs143218779) is reported in the literature in several individuals affected with congenital bilateral absence of the vas deferens (CBAVD) (Chiang 2019, Wu 2005). This variant found on only a single chromosome in the Genome Aggregation Database (1/251252 alleles), indicating it is not a common polymorphism. The methionine at codon 469 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, another amino acid substitution at this codon (p.Met469Val) has been reported in individuals with CBAVD or pancreatitis (Lu 2013, Lu 2014, Xiao 2017). Nonetheless, due to limited information, the clinical significance of the p.Met469Ile variant is uncertain at this time. References: Chiang HS et al. The role of SLC9A3 in Taiwanese patients with congenital bilateral absence of vas deferens (CBAVD). J Formos Med Assoc. 2019 Feb 20. pii: S0929-6646(18)30529-1. Lu S et al. Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens. Fertil Steril. 2014 May;101(5):1255-60. Lu S et al. Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia. Urology. 2013 Oct;82(4):824-8. Wu CC et al. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum Reprod. 2005 Sep;20(9):2470-5. Xiao Y et al. Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent Pancreatitis. J Pediatr. 2017 Dec;191:158-163.e3.

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