ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2317G>T (p.Ala773Ser)

dbSNP: rs199548487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367987 SCV001564361 uncertain significance Pitt-Hopkins-like syndrome 2 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 813 of the NRXN1 protein (p.Ala813Ser). This variant is present in population databases (rs199548487, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1058810). 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. 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.
Ambry Genetics RCV002547879 SCV003683882 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.2437G>T (p.A813S) alteration is located in exon 12 (coding exon 11) of the NRXN1 gene. This alteration results from a G to T substitution at nucleotide position 2437, causing the alanine (A) at amino acid position 813 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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