ClinVar Miner

Submissions for variant NM_015122.3(FCHO1):c.336+6T>A

gnomAD frequency: 0.00001  dbSNP: rs749004797
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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 RCV001873854 SCV002114534 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the FCHO1 gene. It does not directly change the encoded amino acid sequence of the FCHO1 protein. It affects a nucleotide within the consensus splice site of the intron. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with FCHO1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003956411 SCV004770734 likely benign FCHO1-related disorder 2023-02-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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