ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)

dbSNP: rs2142327117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380135 SCV001578082 pathogenic Familial cancer of breast 2024-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1020*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1068533). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002447506 SCV002754162 pathogenic Hereditary cancer-predisposing syndrome 2023-10-13 criteria provided, single submitter clinical testing The c.3058C>T (p.Q1020*) alteration, located in exon 10 (coding exon 10) of the PALB2 gene, consists of a C to T substitution at nucleotide position 3058. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 1020. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been reported in one individual with breast cancer (Palmer, 2020). Based on the available evidence, this alteration is classified as pathogenic.
Myriad Genetics, Inc. RCV001380135 SCV004189320 pathogenic Familial cancer of breast 2023-09-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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