ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3827C>T (p.Ala1276Val)

gnomAD frequency: 0.00001  dbSNP: rs760554566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224500 SCV000281267 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Ambry Genetics RCV000570830 SCV000672968 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-21 criteria provided, single submitter clinical testing The c.3827C>T (p.A1276V) alteration is located in exon 20 (coding exon 19) of the BLM gene. This alteration results from a C to T substitution at nucleotide position 3827, causing the alanine (A) at amino acid position 1276 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001232070 SCV001404615 uncertain significance Bloom syndrome 2023-09-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLM-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1276 of the BLM protein (p.Ala1276Val). This variant is present in population databases (no rsID available, gnomAD 0.006%). ClinVar contains an entry for this variant (Variation ID: 235580). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function. 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.
Natera, Inc. RCV001232070 SCV001456905 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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