ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1156+1G>C

gnomAD frequency: 0.00003  dbSNP: rs752501574
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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 RCV001956221 SCV002243252 pathogenic not provided 2023-08-31 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the SLC45A2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC45A2 are known to be pathogenic (PMID: 21458243, 26573111). This variant is present in population databases (rs752501574, gnomAD 0.002%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1458150). Disruption of this splice site has been observed in individual(s) with ocular albinism (PMID: 24096233). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV005032017 SCV005671160 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-06-24 criteria provided, single submitter clinical testing

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