ClinVar Miner

Submissions for variant NM_001008949.3(ITPRIPL1):c.925A>G (p.Thr309Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005358733 SCV006021998 uncertain significance not specified 2025-01-18 criteria provided, single submitter clinical testing The c.949A>G (p.T317A) alteration is located in exon 1 (coding exon 1) of the ITPRIPL1 gene. This alteration results from a A to G substitution at nucleotide position 949, causing the threonine (T) at amino acid position 317 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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