ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.5228C>T (p.Ala1743Val)

gnomAD frequency: 0.00001  dbSNP: rs747201343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992201 SCV001144272 uncertain significance not provided 2018-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549784 SCV003552888 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.5039C>T (p.A1680V) alteration is located in exon 39 (coding exon 37) of the ITPR1 gene. This alteration results from a C to T substitution at nucleotide position 5039, causing the alanine (A) at amino acid position 1680 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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