ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)

dbSNP: rs766394024
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565870 SCV000663412 pathogenic Hereditary cancer-predisposing syndrome 2024-11-13 criteria provided, single submitter clinical testing The p.Q1044* pathogenic mutation (also known as c.3130C>T), located in coding exon 11 of the PALB2 gene, results from a C to T substitution at nucleotide position 3130. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV000700246 SCV000828994 pathogenic Familial cancer of breast 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1044*) 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 premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 31841383). ClinVar contains an entry for this variant (Variation ID: 480290). Studies have shown that this premature translational stop signal is associated with inconclusive levels of altered splicing (Invitae). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000700246 SCV001139987 likely pathogenic Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000700246 SCV004186241 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.
BRCAlab, Lund University RCV003155951 SCV002589002 pathogenic Hereditary breast ovarian cancer syndrome 2022-08-26 no assertion criteria provided clinical testing

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