ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3136A>G (p.Asn1046Asp)

gnomAD frequency: 0.00002  dbSNP: rs199890800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713184 SCV000843770 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003398737 SCV004104044 uncertain significance SETD2-related condition 2023-08-31 criteria provided, single submitter clinical testing The SETD2 c.3136A>G variant is predicted to result in the amino acid substitution p.Asn1046Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-47162990-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Invitae RCV003591686 SCV004312422 uncertain significance Luscan-Lumish syndrome 2022-12-23 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 SETD2 protein function. ClinVar contains an entry for this variant (Variation ID: 135216). This variant has not been reported in the literature in individuals affected with SETD2-related conditions. This variant is present in population databases (rs199890800, gnomAD 0.008%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1046 of the SETD2 protein (p.Asn1046Asp).
ITMI RCV000122028 SCV000086239 not provided not specified 2013-09-19 no assertion provided reference population

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