ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002775135 SCV003020052 likely benign Cataract 18 2024-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973594 SCV005594750 uncertain significance Inborn genetic diseases 2024-08-26 criteria provided, single submitter clinical testing The c.3425T>C (p.I1142T) alteration is located in exon 11 (coding exon 10) of the FYCO1 gene. This alteration results from a T to C substitution at nucleotide position 3425, causing the isoleucine (I) at amino acid position 1142 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003903770 SCV004725032 likely benign FYCO1-related disorder 2023-02-09 no assertion criteria provided 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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