ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1389-5C>T

gnomAD frequency: 0.00001  dbSNP: rs377752443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727375 SCV001961994 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073400 SCV002460200 likely benign Charcot-Marie-Tooth disease type 4 2023-12-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151347 SCV003839541 uncertain significance not specified 2022-12-16 no assertion criteria provided clinical testing DNA sequence analysis of the FIG4 gene demonstrated a sequence change in intron 12, c.1389-5C>T. This change does not appear to have been previously described in individuals with SOX9-related disorders. This sequence change has been described in the gnomAD database in 3 individuals which corresponds to a population frequency of 0.0012% (dbSNP rs377752443). This sequence change is not predicted to have a deleterious effect on splicing based on in-silico splice prediction programs. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined. Biallelic pathogenic variants in FIG4 are associated Charcot-Marie-Tooth disease, type 4J [OMIM# 611228]. Biallelic pathogenic variants in FIG4 have also been identified in individuals with Yunis-Varon syndrome [OMIM# 216340], characterized by skeletal defects and severe neurologic involvement. Some individuals are reported to have genitourinary abnormalities including hypospadias, micropenis, and cryptorchidism.

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