ClinVar Miner

Submissions for variant NM_000934.4(SERPINF2):c.1396G>A (p.Gly466Arg)

gnomAD frequency: 0.00006  dbSNP: rs144890920
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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 RCV001503729 SCV001708587 likely benign not provided 2024-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004857804 SCV005495502 uncertain significance not specified 2024-08-26 criteria provided, single submitter clinical testing The c.1396G>A (p.G466R) alteration is located in exon 10 (coding exon 9) of the SERPINF2 gene. This alteration results from a G to A substitution at nucleotide position 1396, causing the glycine (G) at amino acid position 466 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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