ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del)

dbSNP: rs387906318
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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 RCV002512770 SCV003525811 likely pathogenic not provided 2024-03-26 criteria provided, single submitter clinical testing This variant, c.662_664del, results in the deletion of 1 amino acid(s) of the SLC45A2 protein (p.Phe221del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of oculocutaneous albisnism (PMID: 14722913, 29345414, 34838614; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV002512770 SCV003933662 likely pathogenic not provided 2023-04-25 criteria provided, single submitter clinical testing Observed with a second SLC45A2 variant in patients with oculocutaneous albinism in published literature, although additional clinical information and segregation data were not provided (Rundshagen et al., 2004; Lasseaux et al., 2018); In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 30398625, 14722913, 29345414, 34838614)
OMIM RCV000004759 SCV000024935 pathogenic Oculocutaneous albinism type 4 2004-02-01 no assertion criteria provided literature only

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