NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) AND Qualitative or quantitative defects of dysferlin

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Dec 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)]

NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)

DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)
  • NC_000002.12:g.71612796G>A
  • NG_008694.1:g.164174G>A
  • NM_001130455.2:c.4326G>A
  • NM_001130976.2:c.4281G>A
  • NM_001130977.2:c.4281G>A
  • NM_001130978.2:c.4323G>A
  • NM_001130979.2:c.4416G>A
  • NM_001130980.2:c.4374G>A
  • NM_001130981.2:c.4374G>A
  • NM_001130982.2:c.4419G>A
  • NM_001130983.2:c.4326G>A
  • NM_001130984.2:c.4284G>A
  • NM_001130985.2:c.4377G>A
  • NM_001130986.2:c.4284G>A
  • NM_001130987.2:c.4377G>AMANE SELECT
  • NM_003494.4:c.4323G>A
  • NP_001123927.1:p.Gln1442=
  • NP_001124448.1:p.Gln1427=
  • NP_001124449.1:p.Gln1427=
  • NP_001124450.1:p.Gln1441=
  • NP_001124451.1:p.Gln1472=
  • NP_001124452.1:p.Gln1458=
  • NP_001124453.1:p.Gln1458=
  • NP_001124454.1:p.Gln1473=
  • NP_001124455.1:p.Gln1442=
  • NP_001124456.1:p.Gln1428=
  • NP_001124457.1:p.Gln1459=
  • NP_001124458.1:p.Gln1428=
  • NP_001124459.1:p.Gln1459=
  • NP_003485.1:p.Gln1441=
  • LRG_845t1:c.4323G>A
  • LRG_845t2:c.4377G>A
  • LRG_845:g.164174G>A
  • LRG_845p1:p.Gln1441=
  • LRG_845p2:p.Gln1459=
  • NC_000002.11:g.71839926G>A
  • NM_003494.3:c.4323G>A
dbSNP: rs76576806
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001130455.2:c.4326G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130976.2:c.4281G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130977.2:c.4281G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130978.2:c.4323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130979.2:c.4416G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130980.2:c.4374G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130981.2:c.4374G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130982.2:c.4419G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130983.2:c.4326G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130984.2:c.4284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130985.2:c.4377G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130986.2:c.4284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130987.2:c.4377G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003494.4:c.4323G>A - synonymous variant - [Sequence Ontology: SO:0001819]


Qualitative or quantitative defects of dysferlin
MONDO: MONDO:0016145; MedGen: C2931687

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000649689Invitaecriteria provided, single submitter
(Dec 8, 2020)
germlineclinical testing

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

SCV001303232Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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



Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

Details of each submission

From Invitae, SCV000649689.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV001303232.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Nov 27, 2021

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