ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)

gnomAD frequency: 0.00003  dbSNP: rs148810507
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536634 SCV000626354 uncertain significance Fanconi anemia 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 556 of the FANCM protein (p.Asp556Gly). This variant is present in population databases (rs148810507, gnomAD 0.04%). This missense change has been observed in individual(s) with personal and/or family history of breast cancer (PMID: 34326862, 34646395). ClinVar contains an entry for this variant (Variation ID: 456254). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Baylor Genetics RCV001293939 SCV001482641 uncertain significance Spermatogenic failure 28 2020-02-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001584242 SCV001818811 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28717660, 28881617, 34646395)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800738 SCV002047108 uncertain significance not specified 2021-05-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255431 SCV002527316 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
Mendelics RCV003492091 SCV004232591 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing

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