ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)

gnomAD frequency: 0.00093  dbSNP: rs148735953
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825199 SCV000966476 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ile31Thr in Exon 02 of MYO6: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (14/3738) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e; dbSNP rs148735953).
GeneDx RCV001355675 SCV001819537 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Invitae RCV001355675 SCV002362342 likely benign not provided 2023-07-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355675 SCV001550626 uncertain significance not provided no assertion criteria provided clinical testing The MYO6 p.I31T variant was not identified in the literature but was identified in dbSNP (ID: rs148735953) and ClinVar (classified as likely benign by Laboratory for Molecular Medicine). The variant was identified in control databases in 81 of 282852 chromosomes at a frequency of 0.0002864, and was observed at the highest frequency in the African population in 77 of 24968 chromosomes (freq: 0.003084) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.I31 residue is conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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