ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3037_3040del (p.Val1014fs) (rs1580731750)

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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, Partners HealthCare Personalized Medicine RCV000826139 SCV000967663 pathogenic Primary ciliary dyskinesia 2018-05-10 criteria provided, single submitter clinical testing The p.Val1014LeufsX20 variant in DNAH5 has been identified in the compound heter ozygous state in 2 individuals and in the homozygous state in 1 individual, all with PCD. It was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 1014 and leads to a premature termination codon 20 amino acids down stream. This alteration is then predicted to lead to a truncated or absent prote in. In summary, this variant meets criteria to be classified as pathogenic for p rimary ciliary dyskinesia in an autosomal recessive manner based upon predicted loss-of-function impact, case observations, and absence from controls. ACMG/AMP criteria applied: PVS1, PM2, PM3.

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