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NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg) AND Oculocutaneous albinism type 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 1, 2024
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:
RCV004690854.1

Allele description [Variation Report for NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)]

NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)

Gene:
TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p23
Genomic location:
Preferred name:
NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)
HGVS:
  • NC_000009.12:g.12694084T>C
  • NG_011705.1:g.5699T>C
  • NM_000550.3:c.88T>CMANE SELECT
  • NP_000541.1:p.Cys30Arg
  • NC_000009.11:g.12694084T>C
Protein change:
C30R
Molecular consequence:
  • NM_000550.3:c.88T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oculocutaneous albinism type 3 (OCA3)
Synonyms:
ALBINISM III; Albinism 3; Albinism, oculocutaneous, type III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008747; MedGen: C0342683; Orphanet: 79433; OMIM: 203290

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005186129Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(May 1, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.

Dolinska MB, Anderson DE, Sergeev YV.

Protein Sci. 2023 Jan;32(1):e4518. doi: 10.1002/pro.4518.

PubMed [citation]
PMID:
36412553
PMCID:
PMC9793978

Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.

Yamada M, Sakai K, Hayashi M, Hozumi Y, Abe Y, Kawaguchi M, Ihn H, Suzuki T.

J Dermatol Sci. 2011 Dec;64(3):217-22. doi: 10.1016/j.jdermsci.2011.09.005. Epub 2011 Sep 24.

PubMed [citation]
PMID:
21996312

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005186129.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: TYRP1 c.88T>C (p.Cys30Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251048 control chromosomes. c.88T>C has been reported in the compound heterozygous state in individuals affected with Oculocutaneous albinism type 3 (Yamada_2011). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (Yamada_2011, Dolinksa_2023). The following publications have been ascertained in the context of this evaluation (PMID: 36412553, 21996312). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Aug 18, 2024