ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr)

dbSNP: rs778786003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670432 SCV000795283 uncertain significance Bloom syndrome 2017-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010782 SCV001171023 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-07 criteria provided, single submitter clinical testing The c.129_130insTAT variant (also known as p.S43_D44insY), located in coding exon 2 of the BLM gene, results from an in-frame TAT insertion at nucleotide positions 129 to 130. This results in the insertion of an extra tyrosine residue between codons 43 and 44. This alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000670432 SCV001218227 uncertain significance Bloom syndrome 2022-11-01 criteria provided, single submitter clinical testing This variant, c.129_130insTAT, results in the insertion of 1 amino acid(s) of the BLM protein (p.Ser43_Asp44insTyr), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 554748). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. RCV000670432 SCV002089888 uncertain significance Bloom syndrome 2018-07-06 no assertion criteria provided clinical testing

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