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NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro) AND Smith-Lemli-Opitz syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2017
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:
RCV000670470.1

Allele description [Variation Report for NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro)]

NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro)

Gene:
DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro)
HGVS:
  • NC_000011.10:g.71435778A>G
  • NG_012655.2:g.17654T>C
  • NM_001163817.2:c.1025T>C
  • NM_001360.3:c.1025T>CMANE SELECT
  • NP_001157289.1:p.Leu342Pro
  • NP_001351.2:p.Leu342Pro
  • NP_001351.2:p.Leu342Pro
  • LRG_340t1:c.1025T>C
  • LRG_340:g.17654T>C
  • LRG_340p1:p.Leu342Pro
  • NC_000011.9:g.71146824A>G
  • NM_001360.2:c.1025T>C
Protein change:
L342P
Links:
dbSNP: rs199957106
NCBI 1000 Genomes Browser:
rs199957106
Molecular consequence:
  • NM_001163817.2:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Smith-Lemli-Opitz syndrome (SLOS)
Synonyms:
LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010035; MedGen: C0175694; Orphanet: 818; OMIM: 270400

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795324Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Nov 7, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000795324.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024