ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) (rs397507560)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000007110 SCV000058055 pathologic Fanconi anemia, complementation group G 2011-02-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000700011 SCV000828746 pathogenic Fanconi anemia 2018-12-04 criteria provided, single submitter clinical testing This sequence change deletes 10 nucleotides from exon 14 of the FANCG mRNA (c.1795_1804del), causing a frameshift at codon 599 (p.Trp599Profs*49). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acids of the FANCG protein and to extend the protein by an additional 25 amino acids. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed as homozygous or on the opposite chromosome (in trans) from another pathogenic variant in FANCG in individuals affected with Fanconi anemia (PMID: 12552564). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. In addition, this variant has been reported as a common FANCG pathogenic variant in Northern European population (PMID: 12552564, 20301575). This variant is also known as c.1794_1803del10 or c.1794_1803del in the literature. ClinVar contains an entry for this variant (Variation ID: 6718). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007110 SCV000027306 pathogenic Fanconi anemia, complementation group G 2003-02-01 no assertion criteria provided literature only

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