ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3342_3343insCCT (p.Ser1114_Glu1115insPro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577184 SCV005061078 uncertain significance Fanconi anemia complementation group A criteria provided, single submitter clinical testing The observed inframe insertion c.3342_3343insCCT(p.Ser1114_Glu1115insPro) variant in FANCA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The insertion of amino acid Pro between amino acids Ser at position 1114 and Glu at position 1115 changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance.

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