ClinVar Miner

Submissions for variant NM_000054.7(AVPR2):c.331_332del (p.Leu111fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003560306 SCV004299150 pathogenic not provided 2024-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu111Valfs*80) in the AVPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AVPR2 are known to be pathogenic (PMID: 8037205, 10820168). This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with nephrogenic diabetes insipidus (PMID: 8037205, 29594432, 34101133). This variant is also known as 402delCT. For these reasons, this variant has been classified as Pathogenic.

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