ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1567G>A (p.Ala523Thr)

gnomAD frequency: 0.00001  dbSNP: rs371334000
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753356 SCV002004947 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29345414)
Labcorp Genetics (formerly Invitae), Labcorp RCV001753356 SCV002124249 uncertain significance not provided 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 523 of the SLC45A2 protein (p.Ala523Thr). This variant is present in population databases (rs371334000, gnomAD 0.009%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 29345414). 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: 1318809). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Breakthrough Genomics, Breakthrough Genomics RCV001753356 SCV005189450 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005038309 SCV005671149 uncertain significance SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-03-20 criteria provided, single submitter clinical testing

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