ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe)

gnomAD frequency: 0.00001  dbSNP: rs565278457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959764 SCV002216972 uncertain significance not provided 2022-04-30 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 524 of the SLC45A2 protein (p.Leu524Phe). This variant is present in population databases (rs565278457, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SLC45A2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002503657 SCV002812313 uncertain significance SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2021-08-09 criteria provided, single submitter clinical testing

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