ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) (rs372771179)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493470 SCV000581865 uncertain significance not provided 2019-01-08 criteria provided, single submitter clinical testing The A624T variant of uncertain significance in the NOTCH1 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 5/23,728 (0.02%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). A624T is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Additional evidence is needed to clarify the pathogenicity of this variant, including observation in a significant number of affected individuals, segregation data, and functional evidence.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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