ClinVar Miner

Submissions for variant NM_001014342.3(FLG2):c.3749G>A (p.Ser1250Asn)

dbSNP: rs1654090543
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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 RCV004094748 SCV003564856 uncertain significance not specified 2021-07-09 criteria provided, single submitter clinical testing The c.3749G>A (p.S1250N) alteration is located in exon 3 (coding exon 2) of the FLG2 gene. This alteration results from a G to A substitution at nucleotide position 3749, causing the serine (S) at amino acid position 1250 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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