ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3320A>T (p.Tyr1107Phe) (rs367913308)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523333 SCV000619381 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing The Y1107F variant in the DNAH5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y1107F variant is observed in 49/16506 (0.297%) alleles from individuals of south Asian background in the ExAC dataset; no individuals are homozygous for this variant (Lek et al., 2016). The Y1107F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Y1107F as a variant of uncertain significance.
Invitae RCV001087092 SCV001026542 likely benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing

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