ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met)

gnomAD frequency: 0.00059  dbSNP: rs200848641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482590 SCV000571184 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26969326)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825982 SCV000967470 uncertain significance not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Thr1639Met variant in MYO7A has been reported in 1 individual who harbored a second variant of uncertain significance in MYO7A (Sloan-Heggen 2016). This v ariant has been identified in 0.23% (54/24014) of African chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/) and is repo rted in ClinVar (Variation ID: 421863). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogeni c role. Computational prediction tools and conservation analysis suggest that th e p.Thr1630Met variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the p.Thr1639Met variant is uncertain. ACMG/AMP Criteria applied: PP3, BS1_ Supporting.
Invitae RCV000482590 SCV001066946 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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