ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689540 SCV005185813 pathogenic Oculocutaneous albinism type 4 2024-05-15 criteria provided, single submitter clinical testing Variant summary: SLC45A2 c.1456G>A (p.Ala486Thr) 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 251166 control chromosomes. c.1456G>A has been reported in the literature in multiple individuals affected with albinism (example, Wei_2022). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 34838614). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796878 SCV005418838 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM5_Supporting+PM3_Supporting+PP4
Fulgent Genetics, Fulgent Genetics RCV004796878 SCV005671152 pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756575 SCV005363171 likely pathogenic SLC45A2-related disorder 2024-08-19 no assertion criteria provided clinical testing The SLC45A2 c.1456G>A variant is predicted to result in the amino acid substitution p.Ala486Thr. This variant has been reported in multiple individuals with oculocutaneous albinism (Xue et al. 2016. PubMed ID: 27706749; Chuan et al. 2021. PubMed ID: 32552135 Wei. 2022. PubMed ID: 34838614). This variant has not been reported in a large population database, indicating this variant is rare. Given the evidence, we interpret this variant as likely pathogenic.

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