ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.670_671delinsAT (p.Pro224Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476590 SCV004202027 uncertain significance Familial cancer of breast 2023-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003476590 SCV004451255 uncertain significance Familial cancer of breast 2023-03-29 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. 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. This variant has not been reported in the literature in individuals affected with PALB2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces proline, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 224 of the PALB2 protein (p.Pro224Ile).

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