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NM_170707.4(LMNA):c.953C>T (p.Ala318Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 2023
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:
RCV004026818.1

Allele description [Variation Report for NM_170707.4(LMNA):c.953C>T (p.Ala318Val)]

NM_170707.4(LMNA):c.953C>T (p.Ala318Val)

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.953C>T (p.Ala318Val)
HGVS:
  • NC_000001.11:g.156135917C>T
  • NG_008692.2:g.58345C>T
  • NM_001257374.3:c.617C>T
  • NM_001282624.2:c.710C>T
  • NM_001282625.2:c.953C>T
  • NM_001282626.2:c.953C>T
  • NM_005572.4:c.953C>T
  • NM_170707.4:c.953C>TMANE SELECT
  • NM_170708.4:c.953C>T
  • NP_001244303.1:p.Ala206Val
  • NP_001269553.1:p.Ala237Val
  • NP_001269554.1:p.Ala318Val
  • NP_001269555.1:p.Ala318Val
  • NP_005563.1:p.Ala318Val
  • NP_005563.1:p.Ala318Val
  • NP_733821.1:p.Ala318Val
  • NP_733822.1:p.Ala318Val
  • LRG_254t1:c.953C>T
  • LRG_254t2:c.953C>T
  • LRG_254:g.58345C>T
  • LRG_254p1:p.Ala318Val
  • NC_000001.10:g.156105708C>T
  • NM_005572.3:c.953C>T
  • NM_170707.2:c.953C>T
Protein change:
A206V
Links:
dbSNP: rs1212920276
NCBI 1000 Genomes Browser:
rs1212920276
Molecular consequence:
  • NM_001257374.3:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.710C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.953C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.953C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.953C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.953C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.953C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005030915Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 16, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM.

Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28.

PubMed [citation]
PMID:
25351510
PMCID:
PMC4345808

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S.

BMC Med Genet. 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8.

PubMed [citation]
PMID:
26392352
PMCID:
PMC4578331
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV005030915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.A318V variant (also known as c.953C>T), located in coding exon 6 of the LMNA gene, results from a C to T substitution at nucleotide position 953. The alanine at codon 318 is replaced by valine, an amino acid with similar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort; however, clinical details were limited (Lopes LR et al. Heart, 2015 Feb;101:294-301). Additionally, this alteration was detected in an inherited peripheral neuropathy cohort and a muscular dystrophy cohort (Antoniadi T et al. BMC Med Genet, 2015 Sep;16:84; Masri AT et al. Clin Neurol Neurosurg, 2022 Jun;217:107271). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024