ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) (rs199784029)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719177 SCV000850043 uncertain significance History of neurodevelopmental disorder 2017-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723727 SCV000111406 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515350 SCV000611417 uncertain significance Pitt-Hopkins-like syndrome 2; Schizophrenia 17 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000723727 SCV000241921 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NRXN1 gene. The P108S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P108S variant is observed in 38/7876 (0.5%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In silico analysis predicts this variant likely does not alter the protein structure/function. However, the P108S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size, and/or other properties. This substitution occurs at a position that is conserved in mammals. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000464480 SCV000562371 likely benign Pitt-Hopkins-like syndrome 2 2017-12-26 criteria provided, single submitter clinical testing

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