ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) (rs144008013)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765164 SCV000896393 uncertain significance SPERMATOGENIC FAILURE 28; PREMATURE OVARIAN FAILURE 15 2018-10-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709952 SCV000840312 not provided Fanconi anemia, complementation group M no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000465642 SCV000547802 uncertain significance Fanconi anemia 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1857 of the FANCM protein (p.Val1857Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs144008013, ExAC 0.05%). This variant has been reported in an individual affected with breast cancer, as well as in two unaffected individuals (PMID: 19737859). ClinVar contains an entry for this variant (Variation ID: 408221). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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