ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.916G>A (p.Asp306Asn) (rs769059187)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485064 SCV000573564 uncertain significance not provided 2018-10-22 criteria provided, single submitter clinical testing The D306N variant in the LOXHD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D306N variant is observed in 1/2,716 (0.037%) alleles from individuals of African background in the ExAC dataset; no individuals were homozygous (Lek et al., 2016). The D306N 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 Aspartic acid are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D306N as a variant of uncertain significance.

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