ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.73C>T (p.Leu25Phe)

gnomAD frequency: 0.00001  dbSNP: rs777083581
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227005 SCV001399339 uncertain significance not provided 2023-09-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 25 of the AIP protein (p.Leu25Phe). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with AIP-related conditions. ClinVar contains an entry for this variant (Variation ID: 954536). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AIP protein function. 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.
Sema4, Sema4 RCV002255634 SCV002535455 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-02 criteria provided, single submitter curation
Ambry Genetics RCV002255634 SCV002673538 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-03 criteria provided, single submitter clinical testing The p.L25F variant (also known as c.73C>T), located in coding exon 1 of the AIP gene, results from a C to T substitution at nucleotide position 73. The leucine at codon 25 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003469398 SCV004196004 uncertain significance Somatotroph adenoma 2023-05-19 criteria provided, single submitter clinical testing

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