ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.428C>A (p.Ser143Tyr)

dbSNP: rs1488217859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071593 SCV001236903 uncertain significance Bloom syndrome 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 143 of the BLM protein (p.Ser143Tyr). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 864406). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002327372 SCV002629551 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-24 criteria provided, single submitter clinical testing The p.S143Y variant (also known as c.428C>A), located in coding exon 2 of the BLM gene, results from a C to A substitution at nucleotide position 428. The serine at codon 143 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is highly 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.
Natera, Inc. RCV001071593 SCV002089925 uncertain significance Bloom syndrome 2021-07-19 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003983833 SCV004796807 uncertain significance BLM-related disorder 2024-01-25 no assertion criteria provided clinical testing The BLM c.428C>A variant is predicted to result in the amino acid substitution p.Ser143Tyr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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