NM_002693.2(POLG):c.158_166dup (p.Gln55_Pro56insGlnGlnGln) AND Progressive sclerosing poliodystrophy

Clinical significance:Uncertain significance (Last evaluated: Nov 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000633556.1

Allele description [Variation Report for NM_002693.2(POLG):c.158_166dup (p.Gln55_Pro56insGlnGlnGln)]

NM_002693.2(POLG):c.158_166dup (p.Gln55_Pro56insGlnGlnGln)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.158_166dup (p.Gln55_Pro56insGlnGlnGln)
HGVS:
  • NC_000015.10:g.89333589_89333597dup
  • NG_008218.2:g.6199_6207dup
  • NM_002693.2:c.158_166dup
  • NP_002684.1:p.Gln55_Pro56insGlnGlnGln
  • LRG_765t1:c.158_166dup
  • LRG_765:g.6199_6207dup
  • LRG_765p1:p.Gln55_Pro56insGlnGlnGln
  • NC_000015.9:g.89876820_89876828dup
  • NM_002693.2:c.158_166dupAACAGCAGC
Links:
dbSNP: rs769735492
NCBI 1000 Genomes Browser:
rs769735492

Condition(s)

Name:
Progressive sclerosing poliodystrophy (MTDPS4A)
Synonyms:
Alpers Syndrome; Mitochondrial DNA depletion syndrome 4A (Alpers type); Alpers-Huttenlocher Syndrome
Identifiers:
MedGen: C0205710; Orphanet: 726; OMIM: 203700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000754802Invitaecriteria provided, single submitter
Uncertain significance
(Nov 8, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H.

Neurogenetics. 2013 Nov;14(3-4):225-32. doi: 10.1007/s10048-013-0375-8. Epub 2013 Oct 4.

PubMed [citation]
PMID:
24091540

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.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000754802.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant, c.158_166dupAACAGCAGC, results in the insertion of 3 amino acids to the POLG protein (p.Gln53_Gln55dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in an individual affected with cerebellar and vermis atrophy (PMID: 24091540). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 30, 2019

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