NM_002653.5(PITX1):c.422G>A (p.Arg141Gln) AND Clubfoot

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 27, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003991120.2

Allele description [Variation Report for NM_002653.5(PITX1):c.422G>A (p.Arg141Gln)]

NM_002653.5(PITX1):c.422G>A (p.Arg141Gln)

Gene:

PITX1:paired like homeodomain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_002653.5(PITX1):c.422G>A (p.Arg141Gln)

HGVS:

NC_000005.10:g.135029302C>T
NG_012114.1:g.9973G>A
NG_105843.1:g.300C>T
NM_002653.5:c.422G>AMANE SELECT
NP_002644.4:p.Arg141Gln
NC_000005.9:g.134364992C>T

Protein change:

R141Q

Molecular consequence:

NM_002653.5:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Clubfoot
Synonyms:: Talipes equinovarus; Congenital Talipes Equinovarus; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007342; MedGen: C0009081; Orphanet: 199315; OMIM: 119800; Human Phenotype Ontology: HP:0001762

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004808440	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Uncertain significance (Jul 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004808440

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Uncertain significance
(Jul 27, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004808440.1

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

Description

ACMG Criteria: PM2_SUP, PP3 (ACMG Version 3)

#	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		1	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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