ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.103G>A (p.Asp35Asn)

gnomAD frequency: 0.00003  dbSNP: rs371134699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762601 SCV000892934 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV002533916 SCV003292417 uncertain significance Kleefstra syndrome 1 2022-06-26 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 624383). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. This variant is present in population databases (rs371134699, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 35 of the EHMT1 protein (p.Asp35Asn).

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