ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.7294_7295delinsAA (p.Ala2432Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003312989 SCV004009691 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome criteria provided, single submitter clinical testing A heterozygous missense variant in exon 48 of the TRIO gene that results in the amino acid substitution of Asparagine for Alanine at codon 2432 was detected. This variant has not been reported in the 1000 genomes, gnomAD, gnomdAD and topmed databases The in-silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv). In summary, the variant meets our criteria to be classified as variant of uncertain significance. The reference region is conserved across species.

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