ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5085+828G>A (rs727504848)

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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 RCV000156197 SCV000205913 uncertain significance not specified 2013-11-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp588Asn varia nt in LOXHD1 has not been previously reported in individuals with hearing loss. Frequency data from large population studies is insufficient. Computational ana lyses (amino acid biochemical properties, conservation, SIFT, AlignGVGD, PolyPhe n-2) suggest that the variant may not impact the protein; though this informatio n is not predictive enough to rule out pathogenicity. In summary, additional dat a is needed to determine the clinical significance of this variant.

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