ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3616C>G (p.Gln1206Glu)

gnomAD frequency: 0.00009  dbSNP: rs377167890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308850 SCV001498324 uncertain significance Fanconi anemia 2022-11-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1011098). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs377167890, gnomAD 0.03%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1206 of the FANCM protein (p.Gln1206Glu).
Ambry Genetics RCV002543249 SCV003546483 uncertain significance Inborn genetic diseases 2022-07-14 criteria provided, single submitter clinical testing The c.3616C>G (p.Q1206E) alteration is located in exon 14 (coding exon 14) of the FANCM gene. This alteration results from a C to G substitution at nucleotide position 3616, causing the glutamine (Q) at amino acid position 1206 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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