ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter)

gnomAD frequency: 0.00001  dbSNP: rs727505104
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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, Mass General Brigham Personalized Medicine RCV000156553 SCV000206272 pathogenic Rare genetic deafness 2014-05-15 criteria provided, single submitter clinical testing The Arg1057X variant in LOXHD1 has not been previously reported in individuals w ith hearing loss and was absent from large population studies. This nonsense var iant leads to a premature termination codon at position 1057, which is predicted to lead to a truncated or absent protein. Loss of function variants in the LOXH D1 gene have been previously reported to segregate in affected individuals from several families with autosomal recessive nonsyndromic hearing loss (Grillet 200 9, Edvardson 2011). In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Labcorp Genetics (formerly Invitae), Labcorp RCV000803391 SCV000943260 pathogenic not provided 2023-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 179755). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 29676012). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs727505104, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg1057*) in the LOXHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LOXHD1 are known to be pathogenic (PMID: 19732867, 21465660, 25792669).
Natera, Inc. RCV001277221 SCV001464127 pathogenic Autosomal recessive nonsyndromic hearing loss 77 2020-09-16 no assertion criteria provided clinical testing

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