ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3404G>C (p.Gly1135Ala)

dbSNP: rs730881894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574784 SCV000670693 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-04 criteria provided, single submitter clinical testing The p.G1135A variant (also known as c.3404G>C), located in coding exon 13 of the PALB2 gene, results from a G to C substitution at nucleotide position 3404. The glycine at codon 1135 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569236 SCV005055049 uncertain significance Familial cancer of breast 2023-11-13 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696950 SCV005197070 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing

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