ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.563G>A (p.Arg188Lys)

gnomAD frequency: 0.00002  dbSNP: rs747952123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026755 SCV002312301 uncertain significance Pitt-Hopkins-like syndrome 2 2023-04-20 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1516644). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 188 of the NRXN1 protein (p.Arg188Lys).

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