ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.53A>T (p.Asp18Val)

gnomAD frequency: 0.00001  dbSNP: rs768464863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982521 SCV002223834 uncertain significance not provided 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 18 of the SLC45A2 protein (p.Asp18Val). This variant is present in population databases (rs768464863, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SLC45A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1444648). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV001982521 SCV005189451 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005031966 SCV005671175 uncertain significance SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-02-22 criteria provided, single submitter clinical testing

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