ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1608G>C (p.Lys536Asn)

gnomAD frequency: 0.00001  dbSNP: rs774280710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001095694 SCV001251506 likely pathogenic Hereditary factor XI deficiency disease criteria provided, single submitter research This F11 c.1608G>C (p.K536N) variant was previously reported in the compound heterozygous state in two siblings with Factor XI deficiency (PMID: 28960694).
Labcorp Genetics (formerly Invitae), Labcorp RCV001856291 SCV002241028 pathogenic not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 536 of the F11 protein (p.Lys536Asn). This variant is present in population databases (rs774280710, gnomAD 0.003%). This missense change has been observed in individual(s) with factor XI deficiency (PMID: 11127865, 28960694, 29367083). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as K518N. ClinVar contains an entry for this variant (Variation ID: 873465). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt F11 protein function. For these reasons, this variant has been classified as Pathogenic.

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