ClinVar Miner

Submissions for variant NM_015080.4(NRXN2):c.3254G>A (p.Arg1085His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001256036 SCV001432821 uncertain significance Autistic disorder of childhood onset; Intellectual disability 2019-11-26 criteria provided, single submitter clinical testing The c.3254G>A, p.Arg1085His missense variant in the NRXN2 gene has not been reported in the available literature. The variant has 0.0015% allele frequency in the gnomAD database (4 out of 251,330 heterozygous alleles), indicating this is a rare allele. In silico tools predict a deleterious effect [PMID: 24681721]. Based on the available evidence, the inherited c.3254G>A, p.Arg1085His variant in the NRXN2 gene is classified as a variant of uncertain significance.

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