ClinVar Miner

Submissions for variant NM_001735.3(C5):c.4336del (p.Val1446fs)

dbSNP: rs1554718962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000601577 SCV000731964 likely pathogenic Complement component 5 deficiency 2017-09-09 criteria provided, single submitter clinical testing The p.Val1446TrpfsX19 (NM_001735.2 c.4336delG) variant in C5 has not been report ed in individuals with complement component 5 deficiency and was absent from lar ge population studies. This variant is predicted to cause a frameshift, which al ters the protein?s amino acid sequence beginning at position 1446 and leads to a premature termination codon 19 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Biallelic loss of function o f the C5 gene is an established disease mechanism in complement component 5 defi ciency. In summary, although additional studies are required to fully establish its clinical significance, the p.Val1446TrpfsX19 variant is likely pathogenic fo r complement component 5 deficiency in an autosomal recessive manner based upon a predicted impact to the protein.

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