ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2696G>C (p.Arg899Pro) (rs745683775)

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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 RCV000219519 SCV000271939 uncertain significance not specified 2016-01-15 criteria provided, single submitter clinical testing The p.Arg899Pro variant in LOXHD1 has not been previously reported in individual s with hearing loss. Data from large population studies are insufficient to asse ss the frequency of this variant. Computational prediction tools and conservatio n analyses do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Arg899Pro variant is uncertain.
GeneDx RCV000485022 SCV000571182 uncertain significance not provided 2018-09-24 criteria provided, single submitter clinical testing The R899P variant has been published previously in the compound heterozygous state in association with hearing loss (Wesdorp et al., 2018; Sloan-Heggen et al., 2016). The R899P variant is observed in 30/72192 (0.0416%) alleles from individuals of European (Non-Finnish) background in large population cohorts (Lek et al., 2016). The 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000485022 SCV000708016 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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