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NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) AND Weill-Marchesani 4 syndrome, recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2021
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:
RCV000576627.2

Allele description [Variation Report for NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro)]

NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro)

Gene:
ADAMTS17:ADAM metallopeptidase with thrombospondin type 1 motif 17 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.3
Genomic location:
Preferred name:
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro)
HGVS:
  • NC_000015.10:g.100116867A>G
  • NG_016287.2:g.230112T>C
  • NM_139057.4:c.1868T>CMANE SELECT
  • NP_620688.2:p.Leu623Pro
  • NC_000015.9:g.100657072A>G
  • NG_016287.1:g.230112T>C
  • NM_139057.3:c.1868T>C
Protein change:
L623P
Links:
dbSNP: rs200371613
NCBI 1000 Genomes Browser:
rs200371613
Molecular consequence:
  • NM_139057.4:c.1868T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Weill-Marchesani 4 syndrome, recessive
Synonyms:
Weill-Marchesani-like syndrome; Weill-Marchesani syndrome 4
Identifiers:
MONDO: MONDO:0013176; MedGen: C2750787; Orphanet: 363992; OMIM: 613195

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678239Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 22, 2021) 		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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000678239.2

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

Description

ADAMTS17 NM_139057 exon 13 p.Leu623Pro (c.1868T>C): This variant has not been previously reported in the literature but has been identified in 46/33582 Latino chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs200371613). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Sep 29, 2024