ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1708G>A (p.Asp570Asn) (rs140437150)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041191 SCV000064882 benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Asp570Asn variant in exon 13 of LOXHD1: This variant is not expected to have c linical significance because it has been identified in 193/16434 (1.2%) African American chromosomes by the genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org/; dbSNP rs140437150). ACMG/AMP criteria applied: BA1.
GeneDx RCV000041191 SCV000618523 uncertain significance not specified 2017-06-22 criteria provided, single submitter clinical testing The D570N variant in the LOXHD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D570N variant is observed in 26/2,772 (0.94%) alleles from individuals of African background, with no homozygous control individuals reported, in the ExAC dataset (Lek et al., 2016). The D570N 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 that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D570N as a variant of uncertain significance.
Invitae RCV000887253 SCV001030802 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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