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NM_001814.6(CTSC):c.790A>G (p.Met264Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 3, 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:
RCV000801928.5

Allele description [Variation Report for NM_001814.6(CTSC):c.790A>G (p.Met264Val)]

NM_001814.6(CTSC):c.790A>G (p.Met264Val)

Gene:
CTSC:cathepsin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.2
Genomic location:
Preferred name:
NM_001814.6(CTSC):c.790A>G (p.Met264Val)
HGVS:
  • NC_000011.10:g.88296232T>C
  • NG_007952.1:g.46542A>G
  • NM_001814.6:c.790A>GMANE SELECT
  • NP_001805.4:p.Met264Val
  • LRG_50:g.46542A>G
  • NC_000011.9:g.88029400T>C
  • NM_001814.5:c.790A>G
Protein change:
M264V
Molecular consequence:
  • NM_001814.6:c.790A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Haim-Munk syndrome (HMS)
Synonyms:
Keratosis palmoplantaris with periodontopathia and onychogryposis; Cochin Jewish disorder
Identifiers:
MONDO: MONDO:0009491; MedGen: C1855627; Orphanet: 2342; OMIM: 245010
Name:
Periodontitis, aggressive 1
Synonyms:
PERIODONTITIS, JUVENILE; PERIODONTITIS, PREPUBERTAL; Aggressive Periodontitis
Identifiers:
MONDO: MONDO:0008226; MedGen: C4551681; OMIM: 170650
Name:
Papillon-Lefèvre syndrome (PALS)
Synonyms:
Hyperkeratosis palmoplantaris with periodontosis; Keratoris palmoplantaris with periodontopathia; Palmar-plantar hyperkeratosis and concomitant periodontal destruction; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009490; MedGen: C0030360; Orphanet: 678; OMIM: 245000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000941732Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 3, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000941732.3

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

Description

This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 264 of the CTSC protein (p.Met264Val). This variant is present in population databases (rs779749265, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CTSC-related conditions. ClinVar contains an entry for this variant (Variation ID: 647418). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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: Feb 7, 2023