ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) (rs576199850)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115303 SCV000149212 uncertain significance not provided 2013-09-27 criteria provided, single submitter clinical testing This variant is denoted c.3117A>G at the cDNA level or p.Ile1039Met (I1039M) at the protein level. This variant results in the replacement of an Isoleucine codon (ATA) with a Methionine codon (ATG) at amino acid position 1039 in exon 16 of the BLM gene. The missense substitution has not been published as a mutation, nor has it been reported as a polymorphism to our knowledge. The NHLBI ESP Exome Variant Server reports I1039M was not observed in approximately 6500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. The I1039M variant is a conservative substitution as a neutral, non-polar Isoleucine residue is replaced by a neutral, non-polar Methionine residue at a position that is evolutionarily moderately conserved. This variant is not located in a known functional domain. Additionally, in silico models are consistent in their prediction of a benign effect on protein structure and function. Therefore, based on the currently available information, we consider I1039M to be a variant of unknown significance. The variant is found in COLO-HEREDIC panel(s).
Invitae RCV001081917 SCV000555818 likely benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing

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