ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.889A>C (p.Thr297Pro) (rs117747744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155153 SCV000204839 uncertain significance not specified 2013-11-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr297Pro varia nt in LOXHD1 has not been reported in individuals with hearing loss, but has bee n identified in 1.2% (2/170) of European American and in 0.6% (1/178) of British chromosomes by the 1000 Genomes Project, as well as in 0.1% (4/3182) of Europea n American chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs117747744). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic ro le. The threonine (Thr) residue at position 297 is not conserved through species , and computational analyses (biochemical amino acid properties, AlignGVGD, Poly Phen2, and SIFT) suggest that the Thr297Pro variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In s ummary, the clinical significance of this variant cannot be determined with cert ainty; however, based upon its presence in the general population and the comput ational data, we lean towards a more likely benign role.
Illumina Clinical Services Laboratory,Illumina RCV000339301 SCV000408778 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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