ClinVar Miner

Submissions for variant NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter)

gnomAD frequency: 0.00001  dbSNP: rs756967336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001806662 SCV002050655 pathogenic not provided 2023-04-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33879512)
PreventionGenetics, part of Exact Sciences RCV003394262 SCV004121090 likely pathogenic LHFPL5-related disorder 2023-08-03 criteria provided, single submitter clinical testing The LHFPL5 c.395G>A variant is predicted to result in premature protein termination (p.Trp132*). This variant has been reported in the homozygous state in a patient with profound bilateral sensorineural hearing loss, although this patient was also reported to have features not typically associated with this disorder of optic nerve hypoplasia, dystonia and dysmyelinating leukodystrophy (Supplementary Data 3, Molina-Ramírez. 2022. PubMed ID: 33879512). This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-35773842-G-A). Nonsense variants in LHFPL5 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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