ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.1852_1853del (p.Lys618fs) (rs532302967)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630850 SCV000751819 uncertain significance Fanconi anemia 2017-09-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FANCG gene (p.Lys618Valfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acids of the FANCG protein. This variant is present in population databases (rs532302967, ExAC 0.05%). This variant has not been reported in the literature in individuals with FANCG-related disease. ClinVar contains an entry for this variant (Variation ID: 134362). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.
ITMI RCV000121036 SCV000085204 not provided not specified 2013-09-19 no assertion provided reference population

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