ClinVar Miner

Submissions for variant NM_001278669.2(NFATC1):c.860C>T (p.Pro287Leu)

gnomAD frequency: 0.00027  dbSNP: rs200533002
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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 RCV001249239 SCV003284191 uncertain significance not provided 2024-09-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 287 of the NFATC1 protein (p.Pro287Leu). This variant is present in population databases (rs200533002, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with NFATC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 972943). 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 disruptive. 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.
GenomeConnect, ClinGen RCV001249239 SCV001423174 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01-23-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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