ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3965C>T (p.Ser1322Phe)

dbSNP: rs1362006078
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305731 SCV001495077 uncertain significance Bloom syndrome 2020-07-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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: "Tolerated"; PolyPhen-2: "Possibly 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 1322 of the BLM protein (p.Ser1322Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine.

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