ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.301C>T (p.Arg101Cys)

gnomAD frequency: 0.00004  dbSNP: rs779436059
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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 RCV001899095 SCV002170058 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 101 of the SLC45A2 protein (p.Arg101Cys). This variant is present in population databases (rs779436059, gnomAD 0.01%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 18463683). ClinVar contains an entry for this variant (Variation ID: 1404786). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC45A2 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 RCV002507011 SCV002812750 uncertain significance SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2021-08-19 criteria provided, single submitter clinical testing

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