ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1408C>T (p.Arg470Trp)

gnomAD frequency: 0.00003  dbSNP: rs199807194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003358762 SCV004061782 uncertain significance Inborn genetic diseases 2023-09-14 criteria provided, single submitter clinical testing The c.1408C>T (p.R470W) alteration is located in exon 12 (coding exon 12) of the FTCD gene. This alteration results from a C to T substitution at nucleotide position 1408, causing the arginine (R) at amino acid position 470 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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