ClinVar Miner

Submissions for variant NM_015294.6(TRIM37):c.609_610dup (p.Leu204fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003548835 SCV004271605 pathogenic not provided 2023-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu204Hisfs*2) in the TRIM37 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIM37 are known to be pathogenic (PMID: 10888877, 15108285). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRIM37-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005022025 SCV005649758 likely pathogenic Mulibrey nanism syndrome 2024-06-19 criteria provided, single submitter clinical testing

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