ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr)

dbSNP: rs1555420831
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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 RCV000628653 SCV000749557 uncertain significance Bloom syndrome 2022-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 524789). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 771 of the BLM protein (p.Cys771Tyr). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004025325 SCV005022423 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-02 criteria provided, single submitter clinical testing The p.C771Y variant (also known as c.2312G>A), located in coding exon 10 of the BLM gene, results from a G to A substitution at nucleotide position 2312. The cysteine at codon 771 is replaced by tyrosine, an amino acid with highly dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV000628653 SCV005640455 uncertain significance Bloom syndrome 2024-05-01 criteria provided, single submitter clinical testing

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