ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.910T>G (p.Ser304Ala)

dbSNP: rs2151149729
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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 RCV001907316 SCV002121289 uncertain significance Bloom syndrome 2021-06-14 criteria provided, single submitter clinical testing Experimental studies have shown that this variant affects BLM protein function (PMID: 25794620). This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with alanine at codon 304 of the BLM protein (p.Ser304Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine. 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 RCV002370387 SCV002684200 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-14 criteria provided, single submitter clinical testing The p.S304A variant (also known as c.910T>G), located in coding exon 3 of the BLM gene, results from a T to G substitution at nucleotide position 910. The serine at codon 304 is replaced by alanine, an amino acid with similar 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.

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