ClinVar Miner

Submissions for variant NM_001014342.3(FLG2):c.3923G>T (p.Arg1308Leu)

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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 RCV004625758 SCV005115653 uncertain significance not specified 2024-06-10 criteria provided, single submitter clinical testing The c.3923G>T (p.R1308L) 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 3923, causing the arginine (R) at amino acid position 1308 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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