ClinVar Miner

Submissions for variant NM_018060.4(IARS2):c.601C>T (p.Arg201Cys)

gnomAD frequency: 0.00001  dbSNP: rs768101579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334972 SCV001527989 uncertain significance Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 2018-03-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. The c.1821G>A (p.W607*) variant has been previously reported in one individual affected with Leigh syndrome [PMID 25130867]

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