ClinVar Miner

Submissions for variant NM_015151.4(DIP2A):c.998C>T (p.Pro333Leu)

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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 RCV004369806 SCV004856455 uncertain significance not specified 2024-08-01 criteria provided, single submitter clinical testing The c.998C>T (p.P333L) alteration is located in exon 8 (coding exon 8) of the DIP2A gene. This alteration results from a C to T substitution at nucleotide position 998, causing the proline (P) at amino acid position 333 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003936913 SCV004756581 likely benign DIP2A-related disorder 2022-08-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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