NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 18, 2019
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:: RCV001193914.1

Allele description [Variation Report for NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser)]

NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser)

Other names:

p.Ala375Ser

HGVS:

NC_000001.11:g.156136087G>T
NG_008692.2:g.58515G>T
NM_001257374.3:c.787G>T
NM_001282624.2:c.880G>T
NM_001282625.2:c.1123G>T
NM_001282626.2:c.1123G>T
NM_005572.4:c.1123G>T
NM_170707.3:c.1123G>T
NM_170707.4:c.1123G>TMANE SELECT
NM_170708.4:c.1123G>T
NP_001244303.1:p.Ala263Ser
NP_001269553.1:p.Ala294Ser
NP_001269554.1:p.Ala375Ser
NP_001269555.1:p.Ala375Ser
NP_005563.1:p.Ala375Ser
NP_733821.1:p.Ala375Ser
NP_733822.1:p.Ala375Ser
LRG_254t2:c.1123G>T
LRG_254:g.58515G>T
NC_000001.10:g.156105878G>T
NM_170707.2:c.1123G>T

Protein change:

A263S

Links:

dbSNP: rs879254162

NCBI 1000 Genomes Browser:

rs879254162

Molecular consequence:

NM_001257374.3:c.787G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.880G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.1123G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.1123G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.1123G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.1123G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.1123G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001363087	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 18, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001363087

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 18, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001363087.1

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

Description

Variant summary: LMNA c.1123G>T (p.Ala375Ser) results in a conservative amino acid change located in the rod domain (IPR039008) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251178 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1123G>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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		not provided	not provided	not provided	not provided

Last Updated: Jan 6, 2024

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