ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.249G>T (p.Gly83=)

dbSNP: rs104895072
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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 RCV001341743 SCV001535632 uncertain significance not provided 2020-02-19 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 20506337). This variant has been observed in individual(s) with pituitary adenomas (PMID: 20506337). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41169). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 83 of the AIP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AIP protein.
GeneReviews RCV000034068 SCV000057998 not provided Somatotroph adenoma no assertion provided literature only

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