ClinVar Miner

Submissions for variant NM_001080397.3(SLC45A1):c.1256T>A (p.Leu419Gln)

gnomAD frequency: 0.00023  dbSNP: rs374431547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330212 SCV001521830 uncertain significance Intellectual developmental disorder with neuropsychiatric features 2019-08-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003908525 SCV004727429 likely benign SLC45A1-related disorder 2022-12-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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