ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1128G>T (p.Arg376Ser)

gnomAD frequency: 0.00010  dbSNP: rs373172802
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851992 SCV000899433 uncertain significance Deep venous thrombosis; Thromboembolism 2019-02-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV001095935 SCV001252115 uncertain significance Factor V deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001101390 SCV001257994 uncertain significance Thrombophilia due to activated protein C resistance 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001101391 SCV001257995 uncertain significance Thrombophilia due to thrombin defect 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001101392 SCV001257996 uncertain significance Budd-Chiari syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001095935 SCV001522606 uncertain significance Factor V deficiency 2019-08-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002462126 SCV002757718 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing Reported as p.Arg348Ser in a patient with factor V deficiency who also harbors an additional missense variant in the F5 gene (Delev et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 19486170, 31064749)
Breakthrough Genomics, Breakthrough Genomics RCV002462126 SCV005187045 uncertain significance not provided criteria provided, single submitter not provided

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