ClinVar Miner

Submissions for variant NM_001008949.3(ITPRIPL1):c.1245G>C (p.Glu415Asp)

gnomAD frequency: 0.00009  dbSNP: rs568942457
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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 RCV004253212 SCV003879498 uncertain significance not specified 2023-01-26 criteria provided, single submitter clinical testing The c.1269G>C (p.E423D) alteration is located in exon 1 (coding exon 1) of the ITPRIPL1 gene. This alteration results from a G to C substitution at nucleotide position 1269, causing the glutamic acid (E) at amino acid position 423 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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