ClinVar Miner

Submissions for variant NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp)

gnomAD frequency: 0.00001  dbSNP: rs781036625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000492068 SCV001521834 uncertain significance Intellectual developmental disorder with neuropsychiatric features 2020-05-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000492068 SCV005420678 likely pathogenic Intellectual developmental disorder with neuropsychiatric features 2024-10-04 criteria provided, single submitter research PP1,PS3(moderate),PM3(strong),PM2,PP3
OMIM RCV000492068 SCV000580685 pathogenic Intellectual developmental disorder with neuropsychiatric features 2017-06-26 no assertion criteria provided literature only

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