ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.933TTC[2] (p.Ser316del)

dbSNP: rs564966225
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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 RCV000699170 SCV000827868 uncertain significance Bloom syndrome 2023-10-28 criteria provided, single submitter clinical testing This variant, c.939_941del, results in the deletion of 1 amino acid(s) of the BLM protein (p.Ser316del), 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: 576629). 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.
Ambry Genetics RCV001019251 SCV001180583 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-11 criteria provided, single submitter clinical testing The c.939_941delTTC variant (also known as p.S316del) is located in coding exon 3 of the BLM gene. This variant results from an in-frame TTC deletion at nucleotide positions 939 to 941. This results in the in-frame deletion of a serine at codon 316. This amino acid position is poorly conserved in available vertebrate species. In addition, 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.

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