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NM_001031710.3(KLHL7):c.1097_1098del (p.Leu366fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 22, 2022
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:
RCV003017070.3

Allele description [Variation Report for NM_001031710.3(KLHL7):c.1097_1098del (p.Leu366fs)]

NM_001031710.3(KLHL7):c.1097_1098del (p.Leu366fs)

Gene:
KLHL7:kelch like family member 7 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
NM_001031710.3(KLHL7):c.1097_1098del (p.Leu366fs)
HGVS:
  • NC_000007.14:g.23165858_23165859del
  • NG_016983.2:g.65125_65126del
  • NG_016983.3:g.65075_65076del
  • NM_001031710.3:c.1097_1098delMANE SELECT
  • NM_018846.5:c.953_954del
  • NP_001026880.2:p.Leu366fs
  • NP_061334.4:p.Leu318fs
  • NC_000007.13:g.23205477_23205478del
  • NR_033328.2:n.1470_1471del
Protein change:
L318fs
Molecular consequence:
  • NM_001031710.3:c.1097_1098del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018846.5:c.953_954del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_033328.2:n.1470_1471del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003320154Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 22, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, et al.

Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. Erratum in: Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.020.

PubMed [citation]
PMID:
27392078
PMCID:
PMC5005468

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, et al.

J Med Genet. 2017 Dec;54(12):830-835. doi: 10.1136/jmedgenet-2017-104748. Epub 2017 Oct 26.

PubMed [citation]
PMID:
29074562
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003320154.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with KLHL7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu366Argfs*35) in the KLHL7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KLHL7 are known to be pathogenic (PMID: 27392078, 29074562, 30426380, 31953236).

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

Last Updated: Sep 29, 2024