ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3396G>C (p.Lys1132Asn) (rs1554087241)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521264 SCV000619157 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing The c.3396 G>C variant in the DNAH5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.3396 G>C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In silico splice models predict that c.3396 G>C may damage the natural splice donor site in intron 22. However, in the absence of RNA/functional studies, the actual effect of the c.3396 G>C change in this individual is unknown. If c.3396 G>C does not alter splicing, then it will result in the K1132N missense change. The K1132N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Lysine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret c.3396 G>C as a variant of uncertain significance.

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