ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3478T>C (p.Tyr1160His)

gnomAD frequency: 0.00001  dbSNP: rs752389778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798331 SCV000937943 uncertain significance Bloom syndrome 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 1160 of the BLM protein (p.Tyr1160His). This variant is present in population databases (rs752389778, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 644423). 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.
Ambry Genetics RCV002334500 SCV002618575 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-16 criteria provided, single submitter clinical testing The p.Y1160H variant (also known as c.3478T>C), located in coding exon 17 of the BLM gene, results from a T to C substitution at nucleotide position 3478. The tyrosine at codon 1160 is replaced by histidine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000798331 SCV001456898 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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