ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.802dup (p.Tyr268fs)

gnomAD frequency: 0.00003  dbSNP: rs753041550
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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 RCV001949561 SCV002247342 pathogenic not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr268Leufs*8) in the SLC45A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC45A2 are known to be pathogenic (PMID: 21458243, 26573111). This variant is present in population databases (rs753041550, gnomAD 0.002%). 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: 1458648). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005032020 SCV005671170 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-06-11 criteria provided, single submitter clinical testing

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