ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.944C>T (p.Ser315Phe)

dbSNP: rs1895698325
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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 RCV001234596 SCV001407250 uncertain significance Bloom syndrome 2019-10-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BLM-related conditions. This sequence change replaces serine with phenylalanine at codon 315 of the BLM protein (p.Ser315Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine.
Ambry Genetics RCV004951398 SCV005544535 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-02 criteria provided, single submitter clinical testing The p.S315F variant (also known as c.944C>T), located in coding exon 3 of the BLM gene, results from a C to T substitution at nucleotide position 944. The serine at codon 315 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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