ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.790G>A (p.Asp264Asn)

gnomAD frequency: 0.00001  dbSNP: rs763195731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967647 SCV002221578 uncertain significance Bloom syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 264 of the BLM protein (p.Asp264Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs763195731, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Sema4, Sema4 RCV002256866 SCV002533172 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-26 criteria provided, single submitter curation
Ambry Genetics RCV002256866 SCV005101945 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-26 criteria provided, single submitter clinical testing The c.790G>A (p.D264N) alteration is located in exon 3 (coding exon 2) of the BLM gene. This alteration results from a G to A substitution at nucleotide position 790, causing the aspartic acid (D) at amino acid position 264 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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