ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.629A>G (p.Gln210Arg)

gnomAD frequency: 0.00001  dbSNP: rs1458799973
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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 RCV001336478 SCV001529871 uncertain significance Intellectual disability, autosomal recessive 47 2018-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546780 SCV003721212 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.629A>G (p.Q210R) alteration is located in exon 1 (coding exon 1) of the FMN2 gene. This alteration results from a A to G substitution at nucleotide position 629, causing the glutamine (Q) at amino acid position 210 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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