ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.5382C>G (p.Ser1794Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002779276 SCV003759722 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.5193C>G (p.S1731R) alteration is located in exon 40 (coding exon 38) of the ITPR1 gene. This alteration results from a C to G substitution at nucleotide position 5193, causing the serine (S) at amino acid position 1731 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004790470 SCV005409131 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing

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