ClinVar Miner

Submissions for variant NM_000934.4(SERPINF2):c.725G>A (p.Arg242Lys)

gnomAD frequency: 0.00019  dbSNP: rs201542762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474171 SCV001678339 likely benign not provided 2019-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037149 SCV003533720 uncertain significance not specified 2022-05-11 criteria provided, single submitter clinical testing The c.725G>A (p.R242K) alteration is located in exon 8 (coding exon 7) of the SERPINF2 gene. This alteration results from a G to A substitution at nucleotide position 725, causing the arginine (R) at amino acid position 242 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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