NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu) AND Vitamin D-dependent rickets, type 1A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2023
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:: RCV003761188.1

Allele description [Variation Report for NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu)]

NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu)

Gene:

CYP27B1:cytochrome P450 family 27 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q14.1

Genomic location:

Preferred name:

NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu)

HGVS:

NC_000012.12:g.57766172G>A
NG_007076.1:g.6022C>T
NM_000785.4:c.221C>TMANE SELECT
NP_000776.1:p.Pro74Leu
NC_000012.11:g.58159955G>A

Protein change:

P74L

Molecular consequence:

NM_000785.4:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Vitamin D-dependent rickets, type 1A
Synonyms:: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; PDDR IA; PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA
Identifiers:: MONDO: MONDO:0020723; MedGen: CN283242; OMIM: 264700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004564442	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Uncertain significance (Mar 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004564442

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Uncertain significance
(Mar 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564442.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The CYP27B1 c.221C>T; p.Pro74Leu variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.694). Due to limited information, the clinical significance of this variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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