ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.113C>G (p.Ala38Gly) (rs371875379)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000271163 SCV000685855 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271163 SCV000396133 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328650 SCV000396134 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547522 SCV000633260 uncertain significance Familial cancer of breast 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 38 of the PALB2 protein (p.Ala38Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs371875379, ExAC 0.05%). This variant has been reported in individuals affected with breast cancer (PMID: 29263802). ClinVar contains an entry for this variant (Variation ID: 318561). 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: "Tolerated"; 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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