NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs) AND Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs)]

NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs)

FLAD1:flavin adenine dinucleotide synthetase 1 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs)
  • NC_000001.11:g.154988133_154988136delTTCT
  • NM_025207.4:c.401_404delTTCT
  • NP_079483.3:p.Phe134Cysfs
  • NC_000001.10:g.154960609_154960612delTTCT
OMIM: 610595.0001; dbSNP: rs876661313
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_025207.4:c.401_404delTTCT - frameshift variant - [Sequence Ontology: SO:0001589]


Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)
MedGen: C4310822; OMIM: 255100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000292021OMIMno assertion criteria providedPathogenic
(Jul 2, 2014)
germlineliterature only

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

SCV000778307Pediatric Metabolic Diseases,Hacettepe Universitycriteria provided, single submitter

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedbiparentalyes1not providednot providednot providednot providedcase-control



Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, et al.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

PubMed [citation]

Details of each submission

From OMIM, SCV000292021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)


In a Turkish boy (patient 30), born of consanguineous parents, with lipid storage myopathy due to FLAD1 deficiency (LSMFLAD; 255100), Taylor et al. (2014) identified a homozygous 4-bp deletion (c.397_400delTTCT) in the FLAD1 gene, resulting in a frameshift and premature termination (Phe134CysfsTer8). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 135), 1000 Genomes Project, Exome Sequencing Project databases, and 238 in-house controls. The patient presented at age 4 months with respiratory insufficiency, lipid myopathy, and decreased activities of mitochondrial complexes I and IV. He died at 8 months of age. The patient was part of a cohort of 53 individuals with biochemical evidence of multiple respiratory chain complex defects who underwent whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Pediatric Metabolic Diseases,Hacettepe University, SCV000778307.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedcase-controlnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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