ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.505G>A (p.Glu169Lys)

dbSNP: rs372691338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061592 SCV001226340 uncertain significance Fanconi anemia 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 169 of the FANCA protein (p.Glu169Lys). This variant is present in population databases (rs372691338, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 856187). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002489672 SCV002780722 uncertain significance Fanconi anemia complementation group A 2022-04-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001061592 SCV002090760 uncertain significance Fanconi anemia 2021-02-15 no assertion criteria provided clinical testing

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