NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val) AND Arrhinia with choanal atresia and microphthalmia syndrome

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000497009.1

Allele description [Variation Report for NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val)]

NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val)

Gene:

SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.32

Genomic location:

Preferred name:

NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val)

HGVS:

NC_000018.10:g.2697958A>T
NG_031972.1:g.47071A>T
NM_015295.3:c.1259A>TMANE SELECT
NP_056110.2:p.Asp420Val
NC_000018.9:g.2697956A>T

Protein change:

D420V

Links:

dbSNP: rs1135402742

NCBI 1000 Genomes Browser:

rs1135402742

Molecular consequence:

NM_015295.3:c.1259A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Arrhinia with choanal atresia and microphthalmia syndrome
Synonyms:: Arhinia choanal atresia microphthalmia; Bosma Henkin Christiansen syndrome; Congenital absence of nose and anterior nasopharynx; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011323; MedGen: C1863878; Orphanet: 1135; Orphanet: 2250; OMIM: 603457

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328614	MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital	no assertion criteria provided	Pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328614

MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital

no assertion criteria provided

Pathogenic

de novo

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, et al.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c.

PubMed [citation]

PMID:: 28067909
PMCID:: PMC5473428

Details of each submission

From MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital, SCV000328614.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine