ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.722A>G (p.Asn241Ser) (rs191697915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724335 SCV000231816 uncertain significance not provided 2014-10-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000179554 SCV000711097 uncertain significance not specified 2018-11-27 criteria provided, single submitter clinical testing The p.Asn241Ser variant in LOXHD1 has been previously reported by our laboratory in 1 individual with hearing loss. It has also been identified in 0.15% (40/255 14) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org), and has been reported in ClinVar (Variation ID 198278). Computational prediction tools a nd conservation analysis suggest that the variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summar y, the clinical significance of the p.Asn241Ser variant is uncertain. ACMG/AMP c riteria: BS1_Supporting, PP3.

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