ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.1311del (p.Lys438fs)

dbSNP: rs886043626
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333423 SCV000341150 likely pathogenic not provided 2016-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000333423 SCV001776778 pathogenic not provided 2022-02-23 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 24 amino acids are lost and replaced with 5 incorrect amino acids (HGMD); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28944237)
Invitae RCV000333423 SCV003442514 pathogenic not provided 2023-05-15 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: 287391). This premature translational stop signal has been observed in individual(s) with USH1G-related conditions (PMID: 28944237). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys438Argfs*6) in the USH1G gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH1G are known to be pathogenic (PMID: 12588794, 22219650).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985188 SCV001133203 likely pathogenic Usher syndrome type 1G 2019-09-26 no assertion criteria provided clinical testing

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