NM_019616.4(F7):c.1085C>T (p.Thr362Met) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Sep 18, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000482463.9

Allele description [Variation Report for NM_019616.4(F7):c.1085C>T (p.Thr362Met)]

NM_019616.4(F7):c.1085C>T (p.Thr362Met)

Gene:

F7:coagulation factor VII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_019616.4(F7):c.1085C>T (p.Thr362Met)

HGVS:

NC_000013.11:g.113118758C>T
NG_009258.1:g.960C>T
NG_009262.1:g.17968C>T
NM_000131.4:c.1151C>T
NM_001267554.2:c.899C>T
NM_019616.4:c.1085C>TMANE SELECT
NP_000122.1:p.Thr384Met
NP_001254483.1:p.Thr300Met
NP_062562.1:p.Thr362Met
NP_062562.1:p.Thr362Met
LRG_554t1:c.1151C>T
LRG_554t2:c.1085C>T
LRG_548:g.960C>T
LRG_554:g.17968C>T
LRG_554p1:p.Thr384Met
LRG_554p2:p.Thr362Met
NC_000013.10:g.113773072C>T
NM_019616.3:c.1085C>T
NM_019616.4:c.1085C>T
NR_051961.2:n.1169C>T
p.Thr384Met

Protein change:

T300M

Links:

dbSNP: rs531225271

NCBI 1000 Genomes Browser:

rs531225271

Molecular consequence:

NM_000131.4:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001267554.2:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019616.4:c.1085C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_051961.2:n.1169C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000568817	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Sep 18, 2024)	germline	clinical testing	Citation Link,
SCV001715056	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 6, 2020)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 27227566, 28447100, 22327826, 19751712, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000568817

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Sep 18, 2024)

germline

clinical testing

Citation Link,

SCV001715056

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 6, 2020)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Two new double mutant alleles of the F7 gene and a literature review on alleles with two mutations in FVII deficiency.

Giansily-Blaizot M, Kolaitis N, Borhany M, Moulis G, Guillot O, Shamsi T.

Haemophilia. 2016 Jul;22(4):e304-6. doi: 10.1111/hae.12897. Epub 2016 May 26. No abstract available.

PubMed [citation]

PMID:: 27227566

F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study.

Quintavalle G, Riccardi F, Rivolta GF, Martorana D, Di Perna C, Percesepe A, Tagliaferri A; Ad-Hoc Study Group.

Thromb Haemost. 2017 Aug 1;117(8):1455-1464. doi: 10.1160/TH17-02-0085. Epub 2017 Apr 27.

PubMed [citation]

PMID:: 28447100

See all PubMed Citations (5)

Details of each submission

From GeneDx, SCV000568817.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as T324M due to the use of alternate nomenclature; This variant is associated with the following publications: (PMID: 18976247, 25275492, 25828579, 19751712, 31589614, 32396910, 36073900, 27227566, 37647632, 28447100, 22327826, 36951360, 38202056)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715056.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

PM1, PM2, PP3, PP5

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 14, 2025

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