ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5023C>T (p.Arg1675Cys) (rs201060702)

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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 RCV000155143 SCV000204829 likely benign not specified 2017-08-03 criteria provided, single submitter clinical testing p.Arg1675Cys in exon 32 of LOXHD1: This variant is not expected to have clinical significance due to a lack of conservation across species including mammals. Of note, more than 40 mammalian species have a cysteine (Cys) at this position des pite high nearby amino acid conservation. In addition, computational analyses do not suggest a high likelihood of impact to the protein. This variant has been i dentified in 0.13% (252/182290) of all chromosomes including 2 homozygotes with the highest frequencies in 0.44% (109/24794) of Latino chromosomes and 0.42% (36 /8536) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomA D,; dbSNP rs201060702).
GeneDx RCV000827980 SCV000969654 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000827980 SCV001109738 benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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