ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.2T>C (p.Met1Thr)

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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 RCV002968016 SCV003287776 pathogenic not provided 2024-07-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SLC45A2 mRNA. The next in-frame methionine is located at codon 37. This variant is present in population databases (rs764544992, gnomAD 0.003%). Disruption of the initiator codon has been observed in individual(s) with oculocutaneous albinism (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2075883). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005034541 SCV005671176 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-06-13 criteria provided, single submitter clinical testing

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