ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)

gnomAD frequency: 0.00019  dbSNP: rs146802593
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624371 SCV000741434 likely pathogenic Inborn genetic diseases 2016-03-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729767 SCV000857456 likely pathogenic not provided 2018-06-07 criteria provided, single submitter clinical testing
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe RCV001093591 SCV000998905 pathogenic Oculocutaneous albinism type 4 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000729767 SCV001246806 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV000729767 SCV002245891 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 202 of the SLC45A2 protein (p.Trp202Cys). This variant is present in population databases (rs146802593, gnomAD 0.2%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 24096233, 27734839). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 521031). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC45A2 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Illumina Laboratory Services, Illumina RCV001093591 SCV004801489 likely pathogenic Oculocutaneous albinism type 4 2018-05-03 criteria provided, single submitter clinical testing The SLC45A2 c.606G>C p.(Trp202Cys) missense variant has been reported in at least two studies in which it is found in a total of five probands including four in a compound heterozygous state, and one in a heterozygous state (Rundshagen et al. 2004; Mauri et al. 2017). The highest frequency of this allele in the Genome Aggregation Database is 0.001712 in the European (Finnish) population (version 2.1.1). Based on the available evidence the c.606G>C p.(Trp202Cys) variant is classified as likely pathogenic for oculocutaneous albinism.

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