ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2876C>T (p.Ala959Val)

gnomAD frequency: 0.00001  dbSNP: rs747802983
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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 RCV001877086 SCV002135773 uncertain significance Alagille syndrome due to a JAG1 point mutation 2023-05-27 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt JAG1 protein function. ClinVar contains an entry for this variant (Variation ID: 1370290). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. This variant is present in population databases (rs747802983, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 959 of the JAG1 protein (p.Ala959Val).
Ambry Genetics RCV003164203 SCV003863903 uncertain significance Cardiovascular phenotype 2024-08-07 criteria provided, single submitter clinical testing The c.2876C>T (p.A959V) alteration is located in exon 23 (coding exon 23) of the JAG1 gene. This alteration results from a C to T substitution at nucleotide position 2876, causing the alanine (A) at amino acid position 959 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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