ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.384G>A (p.Leu128=)

dbSNP: rs138995178
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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 RCV001330785 SCV001522586 uncertain significance Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2019-10-29 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 RCV003963221 SCV004795496 likely benign ADPRS-related disorder 2019-04-26 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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