ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.827C>T (p.Ala276Val) (rs61741147)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573085 SCV000672433 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000765006 SCV000896189 uncertain significance Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph adenoma 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001202575 SCV001373691 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 276 of the AIP protein (p.Ala276Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs61741147, ExAC 0.01%). This variant has not been reported in the literature in individuals with AIP-related conditions. ClinVar contains an entry for this variant (Variation ID: 485056). This variant has been reported to affect AIP protein function (PMID: 27253664). 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.

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