ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.7494C>G (p.Ile2498Met)

dbSNP: rs745924046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266665 SCV002548709 uncertain significance Neurodevelopmental disorder with or without early-onset generalized epilepsy 2021-07-29 criteria provided, single submitter clinical testing The heterozygous c.7494C>G, p.Ile2498Met missense variant has not been reported in individuals affected with NBEA-related disorders.The variant has one heterozygous allele in the gnomAD v3.1.1 database, indicating it is an extremely rare allele in the populations represented in this database. The variant resides at BEACH (Beige and Chediak-Higashi) domains of the NBEA protein. In silico algorithms predict a conflicting interpretation of pathogenicity. Given the lack of compelling evidence for its pathogenicity, the missense variant 7494C>G, p.Ile2498Met identified in the NBEA gene is reported as a Variant ofUncertain Significance.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387541 SCV004099040 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing PM2

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