ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)

dbSNP: rs1131040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001007619 SCV001142640 pathogenic Spastic ataxia; Choreoathetosis; Nystagmus; Dysarthria; Oculomotor apraxia; Intellectual disability; Cerebellar atrophy; Dysmetria; Tremor; Peripheral neuropathy 2019-01-01 criteria provided, single submitter research
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001644875 SCV001519135 pathogenic Spastic ataxia 2021-01-04 criteria provided, single submitter research

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