ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.609_610delinsCA (p.Lys203_Leu204delinsAsnMet)

dbSNP: rs886042534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281400 SCV000334786 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
Invitae RCV001057033 SCV001221502 uncertain significance Pitt-Hopkins-like syndrome 2 2023-05-11 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 283007). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.609_610delinsCA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the NRXN1 protein (p.Lys203_Leu204delinsAsnMet).
GeneDx RCV000281400 SCV001815208 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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