ClinVar Miner

Submissions for variant NM_001014342.3(FLG2):c.3440G>T (p.Arg1147Ile)

gnomAD frequency: 0.00002  dbSNP: rs1352699945
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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 RCV004117124 SCV003593981 uncertain significance not specified 2021-11-01 criteria provided, single submitter clinical testing The c.3440G>T (p.R1147I) alteration is located in exon 3 (coding exon 2) of the FLG2 gene. This alteration results from a G to T substitution at nucleotide position 3440, causing the arginine (R) at amino acid position 1147 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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