ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2434C>T (p.His812Tyr)

gnomAD frequency: 0.00003  dbSNP: rs1310289906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002656484 SCV003543749 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.2434C>T (p.H812Y) alteration is located in exon 13 (coding exon 13) of the F5 gene. This alteration results from a C to T substitution at nucleotide position 2434, causing the histidine (H) at amino acid position 812 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003761595 SCV004511255 uncertain significance Congenital factor V deficiency 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 812 of the F5 protein (p.His812Tyr). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with F5-related conditions. ClinVar contains an entry for this variant (Variation ID: 2215714). 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 F5 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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