ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3407C>T (p.Ala1136Val) (rs1562916044)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731657 SCV000859502 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001122 SCV001158262 uncertain significance not specified 2019-03-07 criteria provided, single submitter clinical testing The CFTR c.3407C>T; p.Ala1136Val variant has been described in an individual with congenital absence of the vas deferens (CAVD; Yang 2015). It contains an entry in ClinVar (Variation ID: 595966) and is absent from general population databases (Exome Variant Server and Genome Aggregation Database), indicating it is not a common polymorphism. The alanine at codon 1136 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to limited clinical information and lack of functional information regarding this variant, its clinical significance cannot be determined with certainty. REFERENCES Yang X et al. Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens. Fertil Steril. 2015 Nov;104(5):1268-75.e1-2.

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