ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.44CGCTGC[1] (p.15PL[1])

dbSNP: rs532691783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936455 SCV002197695 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing This variant, c.50_55del, results in the deletion of 2 amino acid(s) of the ACE protein (p.Pro17_Leu18del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs767132000, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ACE-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002491964 SCV002777068 uncertain significance Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2024-06-14 criteria provided, single submitter clinical testing

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