NM_012335.4(MYO1F):c.1781G>A (p.Arg594Gln) AND Bilateral sensorineural hearing impairment

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 22, 2014
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:: RCV000415052.1

Allele description [Variation Report for NM_012335.4(MYO1F):c.1781G>A (p.Arg594Gln)]

NM_012335.4(MYO1F):c.1781G>A (p.Arg594Gln)

Gene:

MYO1F:myosin IF [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_012335.4(MYO1F):c.1781G>A (p.Arg594Gln)

HGVS:

NC_000019.10:g.8536967C>T
NG_052844.1:g.45481G>A
NM_001348355.2:c.1769G>A
NM_012335.4:c.1781G>AMANE SELECT
NP_001335284.1:p.Arg590Gln
NP_036467.2:p.Arg594Gln
NC_000019.9:g.8601851C>T
NM_012335.3:c.1781G>A

Protein change:

R590Q

Links:

dbSNP: rs148281976

NCBI 1000 Genomes Browser:

rs148281976

Molecular consequence:

NM_001348355.2:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012335.4:c.1781G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Bilateral sensorineural hearing impairment
Identifiers:: MedGen: C0452138; Human Phenotype Ontology: HP:0008619

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328719	Baylor Genetics	no assertion criteria provided	Uncertain significance (May 22, 2014)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328719

Baylor Genetics

no assertion criteria provided

Uncertain significance
(May 22, 2014)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	unknown	2	2	not provided	not provided	not provided	clinical testing

Details of each submission

From Baylor Genetics, SCV000328719.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing (GTR000508680.4)	not provided

Description

Our laboratory reported dual molecular diagnoses in FBN1 (NM_000138.4, c.3509G>A) and MYO1F (NM_012335.3, c.1781G>A) in one individual with reported features of poor wound healing, delayed speech, persistent ear infection, hearing loss, eczema, a history of abnormal thyroid stimulating hormone levels, and sinopulmonary infections. Defects in MYO1F have been reported in individuals with bilateral sensorineural hearing loss [PMID 19027848], an autosomal dominant disorder. While this variant was de novo in this patient, our lab has seen the same variant one other time (inheritance not determined) in a 9-year-old female without mention of hearing loss.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	unknown	not provided	not provided	not provided	(GTR000508680.4)	2	not provided	2	not provided

Last Updated: Dec 24, 2023

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