ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3413C>T (p.Ser1138Leu)

dbSNP: rs2505546920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003093631 SCV003470748 uncertain significance Bloom syndrome 2022-07-29 criteria provided, single submitter clinical testing 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. 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 C15"). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1138 of the BLM protein (p.Ser1138Leu).
Ambry Genetics RCV005310900 SCV005965761 uncertain significance Hereditary cancer-predisposing syndrome 2025-02-01 criteria provided, single submitter clinical testing The p.S1138L variant (also known as c.3413C>T), located in coding exon 17 of the BLM gene, results from a C to T substitution at nucleotide position 3413. The serine at codon 1138 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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