ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.906G>A (p.Val302=) (rs142912418)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000342019 SCV000373586 likely benign Somatotroph adenoma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000573707 SCV000672436 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-30 criteria provided, single submitter clinical testing The c.906G>A variant (also known as p.V302V), located in coding exon 6, results from a G to A substitution at nucleotide position 906 of the AIP gene. This nucleotide substitution does not change the amino acid at codon 302. This nucleotide position is not well conserved in available vertebrate species. Using four different splice site prediction tools (BDGP, ESEfinder, HSF, and MaxEnt), this alteration is predicted to create a new alternate splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001412215 SCV001614293 likely benign not provided 2020-11-15 criteria provided, single submitter clinical testing

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