ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.113G>A (p.Gly38Asp)

dbSNP: rs1553517468
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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 RCV000649739 SCV000771571 uncertain significance Pitt-Hopkins-like syndrome 2 2019-05-07 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with NRXN1-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with aspartic acid at codon 38 of the NRXN1 protein (p.Gly38Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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