ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser)

gnomAD frequency: 0.00001  dbSNP: rs776099053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420615 SCV001622938 uncertain significance Spinocerebellar ataxia type 29 2020-06-26 criteria provided, single submitter clinical testing
GeneDx RCV004699372 SCV005201450 uncertain significance not provided 2024-02-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005038217 SCV005660121 uncertain significance Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 2024-05-22 criteria provided, single submitter clinical testing

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