ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2318G>A (p.Ser773Asn)

dbSNP: rs1896222659
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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 RCV001294057 SCV001482835 uncertain significance Bloom syndrome 2020-01-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002447261 SCV002735408 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-27 criteria provided, single submitter clinical testing The p.S773N variant (also known as c.2318G>A), located in coding exon 10 of the BLM gene, results from a G to A substitution at nucleotide position 2318. The serine at codon 773 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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