ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter)

gnomAD frequency: 0.00003  dbSNP: rs200122644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579325 SCV000680993 pathogenic not provided 2024-12-19 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31589614, 37568588, 27734839)
Labcorp Genetics (formerly Invitae), Labcorp RCV000579325 SCV002134653 pathogenic not provided 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr319*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 27734839). ClinVar contains an entry for this variant (Variation ID: 489020). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002491149 SCV002796079 pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-05-23 criteria provided, single submitter clinical testing

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