NM_000257.4(MYH7):c.3269T>C (p.Leu1090Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 21, 2017
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:: RCV000158599.3

Allele description [Variation Report for NM_000257.4(MYH7):c.3269T>C (p.Leu1090Pro)]

NM_000257.4(MYH7):c.3269T>C (p.Leu1090Pro)

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.3269T>C (p.Leu1090Pro)

Other names:

p.L1090P:CTC>CCC

HGVS:

NC_000014.9:g.23421025A>G
NG_007884.1:g.19637T>C
NM_000257.4:c.3269T>CMANE SELECT
NP_000248.2:p.Leu1090Pro
LRG_384t1:c.3269T>C
LRG_384:g.19637T>C
NC_000014.8:g.23890234A>G
NM_000257.2:c.3269T>C

Protein change:

L1090P

Links:

dbSNP: rs730880772

NCBI 1000 Genomes Browser:

rs730880772

Molecular consequence:

NM_000257.4:c.3269T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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importin alpha isoform 4 [Arabidopsis thaliana]
importin alpha isoform 4 [Arabidopsis thaliana]
gi|30681049|ref|NP_849623.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208534	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jun 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208534

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jun 21, 2017)

germline

clinical testing

Citation Link

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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

Details of each submission

From GeneDx, SCV000208534.8

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

Description

The L1090P variant of uncertain significance in the MYH7 gene has not been published as pathogenic or benign to our knowledge. This variant has not been observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server). In addition, L1090P is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution also occurs at a position where only amino acids with similar properties to leucine are tolerated across species. In silico analysis predicts this variant is probably damaging the protein structure/function. Nevertheless, additional evidence is needed to determine whether this variant is pathogenic or benign.

#	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

Last Updated: Nov 5, 2022

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