ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile)

dbSNP: rs200347646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335949 SCV001529214 uncertain significance Intellectual disability, autosomal recessive 47 2018-02-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003365337 SCV004080016 uncertain significance Inborn genetic diseases 2023-07-11 criteria provided, single submitter clinical testing The c.1244C>T (p.T415I) alteration is located in exon 1 (coding exon 1) of the FMN2 gene. This alteration results from a C to T substitution at nucleotide position 1244, causing the threonine (T) at amino acid position 415 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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