ClinVar Miner

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

dbSNP: rs1896222659
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Total submissions: 3
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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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001294057 SCV005715704 uncertain significance Bloom syndrome 2024-09-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 773 of the BLM protein (p.Ser773Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 998277). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt BLM protein function with a positive predictive value of 80%. 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.

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