ClinVar Miner

Submissions for variant NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile)

dbSNP: rs759222737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454190 SCV000537933 likely pathogenic Abnormal brain morphology criteria provided, single submitter research
Invitae RCV002526372 SCV003440420 uncertain significance not provided 2023-08-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs759222737, gnomAD 0.007%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 402156). This missense change has been observed in individual(s) with motor neuron disease (PMID: 26539891). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 471 of the DSCAML1 protein (p.Val471Ile).

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