ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6524T>G (p.Val2175Gly) (rs1555651054)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600123 SCV000712227 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val2175Gly va riant in LOXHD1 has not been previously reported in any other families with hear ing loss or in large population studies. Computational prediction tools and cons ervation analyses do not provide strong support for or against an impact to the protein. Observation of the variant in homozygosity in a reportedly unaffected, though hearing untested, sibling of a proband reduces the likelihood of pathogen icity. In summary, the clinical significance of the p.Val2175Gly variant is unce rtain but we would lean towards a more likely benign interpretation. ACMG/AMP Cr iteria applied: PM2, BS4_Supporting

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